@article{swaminathan_preferential_2012,
	title = {Preferential encoding of visual categories in parietal cortex compared with prefrontal cortex.},
	volume = {15},
	doi = {10.1038/nn.3016},
	abstract = {The ability to recognize the behavioral relevance, or category membership, of sensory stimuli is critical for interpreting the meaning of events in our environment. Neurophysiological studies of visual categorization have found categorical representations of stimuli in prefrontal cortex (PFC), an area that is closely associated with cognitive and executive functions. Recent studies have also identified neuronal category signals in parietal areas that are typically associated with visual-spatial processing. It has been proposed that category-related signals in parietal cortex and other visual areas may result from 'top-down' feedback from PFC. We directly compared neuronal activity in the lateral intraparietal (LIP) area and PFC in monkeys performing a visual motion categorization task. We found that LIP showed stronger, more reliable and shorter latency category signals than PFC. These findings suggest that LIP is strongly involved in visual categorization and argue against the idea that parietal category signals arise as a result of feedback from PFC during this task},
	language = {eng},
	number = {2},
	journal = {Nat Neurosci},
	author = {Swaminathan, Sruthi K and Freedman, David J},
	year = {2012},
	pmid = {22246435},
	note = {Place: United States
ISBN: 1546-1726},
	keywords = {Action Potentials, Analysis of Variance, Animals, Brain Mapping, Macaca mulatta, Male, Parietal Lobe, Photic Stimulation, Prefrontal Cortex, ROC Curve, Sensory Receptor Cells, Visual Fields, Visual Pathways, research support, n.i.h., extramural, research support, non-u.s. gov't, research support, u.s. gov't, non-p.h.s.},
	pages = {315--320},
}

@article{nestor_unraveling_2011,
	title = {Unraveling the distributed neural code of facial identity through spatiotemporal pattern analysis.},
	volume = {108},
	doi = {10.1073/pnas.1102433108},
	abstract = {Face individuation is one of the most impressive achievements of our visual system, and yet uncovering the neural mechanisms subserving this feat appears to elude traditional approaches to functional brain data analysis. The present study investigates the neural code of facial identity perception with the aim of ascertaining its distributed nature and informational basis. To this end, we use a sequence of multivariate pattern analyses applied to functional magnetic resonance imaging (fMRI) data. First, we combine information-based brain mapping and dynamic discrimination analysis to locate spatiotemporal patterns that support face classification at the individual level. This analysis reveals a network of fusiform and anterior temporal areas that carry information about facial identity and provides evidence that the fusiform face area responds with distinct patterns of activation to different face identities. Second, we assess the information structure of the network using recursive feature elimination. We find that diagnostic information is distributed evenly among anterior regions of the mapped network and that a right anterior region of the fusiform gyrus plays a central role within the information network mediating face individuation. These findings serve to map out and characterize a cortical system responsible for individuation. More generally, in the context of functionally defined networks, they provide an account of distributed processing grounded in information-based architectures},
	language = {eng},
	number = {24},
	journal = {Proc Natl Acad Sci U S A},
	author = {Nestor, Adrian and Plaut, David C and Behrmann, Marlene},
	year = {2011},
	pmid = {21628569},
	note = {Place: United States
ISBN: 1091-6490},
	keywords = {Adult, Brain Mapping, European Continental Ancestry Group, Face, Humans, Magnetic Resonance Imaging, Male, Pattern Recognition, Visual, Task Performance and Analysis, Temporal Lobe, Visual Perception, Young Adult, clinical trial, research support, non-u.s. gov't, research support, u.s. gov't, non-p.h.s.},
	pages = {9998--10003},
}

@article{anderson_effects_2008,
	title = {Effects of familiarity on neural activity in monkey inferior temporal lobe.},
	volume = {18},
	doi = {10.1093/cercor/bhn015},
	abstract = {Long-term familiarity facilitates recognition of visual stimuli. To better understand the neural basis for this effect, we measured the local field potential (LFP) and multiunit spiking activity (MUA) from the inferior temporal (IT) lobe of behaving monkeys in response to novel and familiar images. In general, familiar images evoked larger amplitude LFPs whereas MUA responses were greater for novel images. Familiarity effects were attenuated by image rotations in the picture plane of 45 degrees. Decreasing image contrast led to more pronounced decreases in LFP response magnitude for novel, compared with familiar images, and resulted in more selective MUA response profiles for familiar images. The shape of individual LFP traces could be used for stimulus classification, and classification performance was better for the familiar image category. Recording the visual and auditory evoked LFP at multiple depths showed significant alterations in LFP morphology with distance changes of 2 mm. In summary, IT cortex shows local processing differences for familiar and novel images at a time scale and in a manner consistent with the observed behavioral advantage for classifying familiar images and rapidly detecting novel stimuli.},
	language = {eng},
	number = {11},
	journal = {Cereb Cortex},
	author = {Anderson, Britt and Mruczek, Ryan E B and Kawasaki, Keisuke and Sheinberg, David},
	year = {2008},
	pmid = {18296433},
	note = {Place: United States
ISBN: 1460-2199},
	keywords = {Acoustic Stimulation, Animals, Evoked Potentials, Visual, Eye Movements, Macaca mulatta, Male, Photic Stimulation, Psychomotor Performance, Recognition (Psychology), Temporal Lobe, research support, n.i.h., extramural, research support, u.s. gov't, non-p.h.s.},
	pages = {2540--2552},
}

@article{serre_feedforward_2007,
	title = {A feedforward architecture accounts for rapid categorization.},
	volume = {104},
	doi = {10.1073/pnas.0700622104},
	abstract = {Primates are remarkably good at recognizing objects. The level of performance of their visual system and its robustness to image degradations still surpasses the best computer vision systems despite decades of engineering effort. In particular, the high accuracy of primates in ultra rapid object categorization and rapid serial visual presentation tasks is remarkable. Given the number of processing stages involved and typical neural latencies, such rapid visual processing is likely to be mostly feedforward. Here we show that a specific implementation of a class of feedforward theories of object recognition (that extend the Hubel and Wiesel simple-to-complex cell hierarchy and account for many anatomical and physiological constraints) can predict the level and the pattern of performance achieved by humans on a rapid masked animal vs. non-animal categorization task.},
	language = {eng},
	number = {15},
	journal = {Proc Natl Acad Sci U S A},
	author = {Serre, Thomas and Oliva, Aude and Poggio, Tomaso},
	year = {2007},
	pmid = {17404214},
	note = {Place: United States
ISBN: 0027-8424},
	keywords = {Adult, Humans, Models, Neurological, OR Journal Club, Pattern Recognition, Visual, Photic Stimulation, Psychophysics, Recognition (Psychology), Visual Perception, comparative study, research support, n.i.h., extramural, research support, non-u.s. gov't, research support, u.s. gov't, non-p.h.s.},
	pages = {6424--6429},
}

@article{vogelstein_multichip_2007,
	title = {A multichip neuromorphic system for spike-based visual information processing.},
	volume = {19},
	doi = {10.1162/neco.2007.19.9.2281},
	abstract = {We present a multichip, mixed-signal VLSI system for spike-based vision processing. The system consists of an 80 x 60 pixel neuromorphic retina and a 4800 neuron silicon cortex with 4,194,304 synapses. Its functionality is illustrated with experimental data on multiple components of an attention-based hierarchical model of cortical object recognition, including feature coding, salience detection, and foveation. This model exploits arbitrary and reconfigurable connectivity between cells in the multichip architecture, achieved by asynchronously routing neural spike events within and between chips according to a memory-based look-up table. Synaptic parameters, including conductance and reversal potential, are also stored in memory and are used to dynamically configure synapse circuits within the silicon neurons.},
	language = {eng},
	number = {9},
	journal = {Neural Comput},
	author = {Vogelstein, R Jacob and Mallik, Udayan and Culurciello, Eugenio and Cauwenberghs, Gert and Etienne-Cummings, Ralph},
	year = {2007},
	pmid = {17650061},
	note = {Place: United States
ISBN: 0899-7667},
	keywords = {Action Potentials, Attention, Humans, Micromanipulation, Models, Neurological, Neural Networks (Computer), Neurons, Visual Pathways, research support, n.i.h., extramural, research support, u.s. gov't, non-p.h.s.},
	pages = {2281--2300},
}

Paper  Website  abstract   bibtex   

@article{
 title = {A comparison of linkage disequilibrium patterns and estimated population recombination rates across multiple populations},
 type = {article},
 year = {2005},
 identifiers = {[object Object]},
 keywords = {*Genetics, Population,*Linkage Disequilibrium,African Americans/genetics,African Continental Ancestry Group/genetics,Asian Continental Ancestry Group/genetics,Chromosome Mapping,Chromosomes, Human, Pair 20,Comparative Study,European Continental Ancestry Group/genetics,Great Britain,Haplotypes,Humans,Recombination, Genetic,Research Support, Non-U.S. Gov't,Research Support, U.S. Gov't, P.H.S.,United States},
 pages = {681-687},
 volume = {76},
 websites = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15719321},
 id = {df641bec-fc57-358d-9cb4-13c6665f5e26},
 created = {2017-06-19T13:42:11.904Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:42:12.017Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>0002-9297 (Print)<m:linebreak/>Journal Article</m:note>},
 abstract = {Large-scale studies of linkage disequilibrium (LD) have shown considerable variation in the extent and distribution of pairwise LD within and between populations. Taken at face value, these results suggest that genomewide LD maps for one population may not be generalizable to other populations. However, at least part of this diversity is due to some undesirable features of pairwise LD measures, which are well documented for the D' and r2 measures. In this report, we compare patterns of LD derived from pairwise measures with statistical estimates of population recombination rates ( rho ) along a 10-Mb stretch of chromosome 20 in four population samples, comprising East Asians, African Americans, and U.K. and U.S. individuals of western European descent. The results reveal the expected variability of D' within and between populations but show better concordance in estimates of r2 for the same markers across the population samples. Estimates of rho correlate well across populations, but there is still evidence of population-specific spikes and troughs in rho values. We conclude that it is unlikely that a single haplotype map will provide a definitive guide for association studies of many populations; rather, multiple maps will need to be constructed to provide the best-possible guides for gene mapping.},
 bibtype = {article},
 author = {Evans, D M and Cardon, L R},
 journal = {Am J Hum Genet},
 number = {4}
}

@article{otoole_video_2005,
	title = {A video database of moving faces and people.},
	volume = {27},
	doi = {10.1109/TPAMI.2005.90},
	abstract = {We describe a database of static images and video clips of human faces and people that is useful for testing algorithms for face and person recognition, head/eye tracking, and computer graphics modeling of natural human motions. For each person there are nine static "facial mug shots" and a series of video streams. The videos include a "moving facial mug shot," a facial speech clip, one or more dynamic facial expression clips, two gait videos, and a conversation video taken at a moderate distance from the camera. Complete data sets are available for 284 subjects and duplicate data sets, taken subsequent to the original set, are available for 229 subjects.},
	language = {eng},
	number = {5},
	journal = {IEEE Trans Pattern Anal Mach Intell},
	author = {O'Toole, Alice J and Harms, Joshua and Snow, Sarah L and Hurst, Dawn R and Pappas, Matthew R and Ayyad, Janet H and Abdi, Hervé},
	year = {2005},
	pmid = {15875802},
	note = {Place: United States
ISBN: 0162-8828},
	keywords = {Adult, Cluster Analysis, Database Management Systems, Databases, Factual, Face, Female, Humans, Image Enhancement, Image Interpretation, Computer-Assisted, Information Storage and Retrieval, Male, Models, Biological, Movement, Pattern Recognition, Automated, Photography, Reproducibility of Results, Sensitivity and Specificity, Video Recording, clinical trial, research support, u.s. gov't, non-p.h.s.},
	pages = {812--816},
}

@article{kamitani_decoding_2005,
	title = {Decoding the visual and subjective contents of the human brain.},
	volume = {8},
	doi = {10.1038/nn1444},
	abstract = {The potential for human neuroimaging to read out the detailed contents of a person's mental state has yet to be fully explored. We investigated whether the perception of edge orientation, a fundamental visual feature, can be decoded from human brain activity measured with functional magnetic resonance imaging (fMRI). Using statistical algorithms to classify brain states, we found that ensemble fMRI signals in early visual areas could reliably predict on individual trials which of eight stimulus orientations the subject was seeing. Moreover, when subjects had to attend to one of two overlapping orthogonal gratings, feature-based attention strongly biased ensemble activity toward the attended orientation. These results demonstrate that fMRI activity patterns in early visual areas, including primary visual cortex (V1), contain detailed orientation information that can reliably predict subjective perception. Our approach provides a framework for the readout of fine-tuned representations in the human brain and their subjective contents.},
	language = {eng},
	number = {5},
	journal = {Nat Neurosci},
	author = {Kamitani, Yukiyasu and Tong, Frank},
	year = {2005},
	pmid = {15852014},
	note = {Place: United States
ISBN: 1097-6256},
	keywords = {Adult, Algorithms, Attention, Brain Mapping, Cognition, Evoked Potentials, Visual, Humans, MR Methods, Magnetic Resonance Imaging, Models, Neurological, Orientation, Pattern Recognition, Visual, Photic Stimulation, Visual Cortex, Visual Pathways, Visual Perception, research support, n.i.h., extramural, research support, non-u.s. gov't, research support, u.s. gov't, p.h.s.},
	pages = {679--685},
}

@article{
 title = {The effect of the Neolithic expansion on European molecular diversity},
 type = {article},
 year = {2005},
 identifiers = {[object Object]},
 keywords = {*Demography,*Genetics, Population,*Models, Genetic,*Variation (Genetics),Chromosomes, Human, Y/*genetics,Comparative Study,Computer Simulation,DNA, Mitochondrial/genetics,Europe,European Continental Ancestry Group/*genetics,Gene Frequency,Humans,Polymorphism, Single Nucleotide/genetics,Research Support, U.S. Gov't, Non-P.H.S.},
 pages = {679-688},
 volume = {272},
 id = {c4262ac2-d19d-3443-a5a4-cedcaedd6335},
 created = {2017-06-19T13:45:32.225Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:45:32.347Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>Journal Article</m:note>},
 abstract = {We performed extensive and realistic simulations of the colonization process of Europe by Neolithic farmers, as well as their potential admixture and competition with local Palaeolithic hunter-gatherers. We find that minute amounts of gene flow between Palaeolithic and Neolithic populations should lead to a massive Palaeolithic contribution to the current gene pool of Europeans. This large Palaeolithic contribution is not expected under the demic diffusion (DD) model, which postulates that agriculture diffused over Europe by a massive migration of individuals from the Near East. However, genetic evidence in favour of this model mainly consisted in the observation of allele frequency clines over Europe, which are shown here to be equally probable under a pure DD or a pure acculturation model. The examination of the consequence of range expansions on single nucleotide polymorphism (SNP) diversity reveals that an ascertainment bias consisting of selecting SNPs with high frequencies will promote the observation of genetic clines (which are not expected for random SNPs) and will lead to multimodal mismatch distributions. We conclude that the different patterns of molecular diversity observed for Y chromosome and mitochondrial DNA can be at least partly owing to an ascertainment bias when selecting Y chromosome SNPs for studying European populations.},
 bibtype = {article},
 author = {Currat, M and Excoffier, L},
 journal = {Proc Biol Sci},
 number = {1564}
}

Paper  abstract   bibtex   

@article{
 title = {Modelling the recent common ancestry of all living humans},
 type = {article},
 year = {2004},
 identifiers = {[object Object]},
 keywords = {*Computer Simulation,*Pedigree,*Phylogeny,Emigration and Immigration,Female,Geography,Humans,Male,Monte Carlo Method,Population Density,Population Dynamics,Reproduction,Research Support, U.S. Gov't, P.H.S.,Time Factors},
 pages = {562-566},
 volume = {431},
 id = {c213cb6e-eeef-3a9b-8149-72c0b09cf516},
 created = {2017-06-19T13:43:49.961Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:43:50.083Z},
 tags = {04/12/23},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>Journal Article</m:note>},
 abstract = {If a common ancestor of all living humans is defined as an individual who is a genealogical ancestor of all present-day people, the most recent common ancestor (MRCA) for a randomly mating population would have lived in the very recent past. However, the random mating model ignores essential aspects of population substructure, such as the tendency of individuals to choose mates from the same social group, and the relative isolation of geographically separated groups. Here we show that recent common ancestors also emerge from two models incorporating substantial population substructure. One model, designed for simplicity and theoretical insight, yields explicit mathematical results through a probabilistic analysis. A more elaborate second model, designed to capture historical population dynamics in a more realistic way, is analysed computationally through Monte Carlo simulations. These analyses suggest that the genealogies of all living humans overlap in remarkable ways in the recent past. In particular, the MRCA of all present-day humans lived just a few thousand years ago in these models. Moreover, among all individuals living more than just a few thousand years earlier than the MRCA, each present-day human has exactly the same set of genealogical ancestors.},
 bibtype = {article},
 author = {Rohde, D L and Olson, S and Chang, J T},
 journal = {Nature},
 number = {7008}
}

Paper  Website  abstract   bibtex   

@article{
 title = {Clinical phenotype of families with longevity},
 type = {article},
 year = {2004},
 identifiers = {[object Object]},
 keywords = {*Family Health,Aged,Aged, 80 and over,Cardiovascular Diseases/*epidemiology/genetics,Case-Control Studies,Chronic Disease/*epidemiology,European Continental Ancestry Group/statistics & n,Female,Humans,Israel/epidemiology,Jews/statistics & numerical data,Longevity/*genetics,Male,Matched-Pair Analysis,Middle Aged,Prevalence,Research Support, Non-U.S. Gov't,Research Support, U.S. Gov't, P.H.S.,Risk,Sex Factors,Statistics, Nonparametric,United States/epidemiology},
 pages = {274-277},
 volume = {52},
 websites = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=14728640},
 id = {269afc28-8f71-3cb1-91c4-4f7293ce8166},
 created = {2017-06-19T13:45:32.818Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:45:32.918Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>0002-8614<m:linebreak/>Journal Article</m:note>},
 abstract = {OBJECTIVES: To determine whether offspring of centenarians acquired protection from age-related diseases. DESIGN: Case-control study. SETTING: The study was part of the Longevity Genes Project at Albert Einstein College of Medicine. PARTICIPANTS: Centenarians (n=145), offspring of centenarians (n=180), and spouses of the offspring of centenarians (n=75) as a control group. Two additional groups served as controls: age-matched Ashkenazi Jews, and an age-matched control group from the Third National Health and Nutrition Examination Survey. MEASUREMENTS: Self-reported family history of longevity; prevalence of hypertension, diabetes mellitus, heart attacks, and strokes; and objective measurements of body mass index and fat mass. RESULTS: Parents of centenarians (born in approximately 1870) had a markedly greater ( approximately sevenfold) "risk" for longevity (reaching ages 90-99), supporting the notion that genetics contributed to longevity in these families. The offspring of long-lived parents had significantly lower prevalence of hypertension (by 23%), diabetes mellitus (by 50%), heart attacks (by 60%), and strokes (no events reported) than several age-matched control groups. CONCLUSION: Offspring of centenarians may inherit significantly better health. The authors suggest that a cohort of these subjects and their spouses is ideal to study the phenotype and genotype of longevity and its interaction with the environment.},
 bibtype = {article},
 author = {Atzmon, G and Schechter, C and Greiner, W and Davidson, D and Rennert, G and Barzilai, N},
 journal = {J Am Geriatr Soc},
 number = {2}
}

@article{brincat_underlying_2004,
	title = {Underlying principles of visual shape selectivity in posterior inferotemporal cortex.},
	volume = {7},
	doi = {10.1038/nn1278},
	abstract = {Object perception depends on shape processing in the ventral visual pathway, which in monkeys culminates in inferotemporal cortex (IT). Here we provide a description of fundamental quantitative principles governing neural selectivity for complex shape in IT. By measuring responses to large, parametric sets of two-dimensional (2D) silhouette shapes, we found that neurons in posterior IT (Brodmann's areas TEO and posterior TE) integrate information about multiple contour elements (straight and curved edge fragments of the type represented in lower-level areas) using both linear and nonlinear mechanisms. This results in complex, distributed response patterns that cannot be characterized solely in terms of example stimuli. We explained these response patterns with tuning functions in multidimensional shape space and accurately predicted neural responses to the widely varying shapes in our stimulus set. Integration of contour element information in earlier stages of IT represents an important step in the transformation from low-level shape signals to complex object representation.},
	language = {eng},
	number = {8},
	journal = {Nat Neurosci},
	author = {Brincat, Scott L and Connor, Charles E},
	year = {2004},
	pmid = {15235606},
	note = {Place: United States
ISBN: 1097-6256},
	keywords = {Action Potentials, Animals, Form Perception, Macaca mulatta, Models, Neurological, Neurons, Temporal Lobe, Visual Pathways, Visual Perception, research support, non-u.s. gov't, research support, u.s. gov't, p.h.s.},
	pages = {880--886},
}

@Article{Todorov2004,
  author   = {Emanuel Todorov},
  journal  = {Nat Neurosci},
  title    = {Optimality principles in sensorimotor control.},
  year     = {2004},
  number   = {9},
  pages    = {907-15},
  volume   = {7},
  abstract = {The sensorimotor system is a product of evolution, development, learning
	and adaptation-which work on different time scales to improve behavioral
	performance. Consequently, many theories of motor function are based
	on 'optimal performance': they quantify task goals as cost functions,
	and apply the sophisticated tools of optimal control theory to obtain
	detailed behavioral predictions. The resulting models, although not
	without limitations, have explained more empirical phenomena than
	any other class. Traditional emphasis has been on optimizing desired
	movement trajectories while ignoring sensory feedback. Recent work
	has redefined optimality in terms of feedback control laws, and focused
	on the mechanisms that generate behavior online. This approach has
	allowed researchers to fit previously unrelated concepts and observations
	into what may become a unified theoretical framework for interpreting
	motor function. At the heart of the framework is the relationship
	between high-level goals, and the real-time sensorimotor control
	strategies most suitable for accomplishing those goals.},
  doi      = {10.1038/nn1309},
  keywords = {Adaptation, Afferent Pathways, Algorithms, Animals, Arm, Artifacts, Central Nervous System, Computer Simulation, Efferent Pathways, Extramural, Feedback, Humans, Linear Models, Models, Movement, N.I.H., Neurological, Normal Distribution, P.H.S., Physiological, Psychomotor Performance, Research Support, Stochastic Processes, U.S. Gov't, 15332089},
}

Paper  abstract   bibtex   

@article{
 title = {The use of pedigree, sib-pair and association studies of common diseases for genetic mapping and epidemiology},
 type = {article},
 year = {2004},
 identifiers = {[object Object]},
 keywords = {Chromosome Mapping,Epidemiologic Methods,Genetic Diseases, Inborn/epidemiology/*genetics,Humans,Linkage (Genetics),Pedigree,Phenotype,Research Support, U.S. Gov't, P.H.S.},
 pages = {1045-1051},
 volume = {36},
 id = {2711f28c-c5c7-3eef-be65-2590ead2eb8f},
 created = {2017-06-19T13:45:44.367Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:45:44.502Z},
 tags = {04/12/23},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>Journal Article<m:linebreak/>Review</m:note>},
 abstract = {Efforts to identify gene variants associated with susceptibility to common diseases use three approaches: pedigree and affected sib-pair linkage studies and association studies of population samples. The different aims of these study designs reflect their derivation from biological versus epidemiological traditions. Similar principles regarding determination of the evidence levels required to consider the results statistically significant apply to both linkage and association studies, however. Such determination requires explicit attention to the prior probability of particular findings, as well as appropriate correction for multiple comparisons. For most common diseases, increasing the sample size in a study is a crucial step in achieving statistically significant genetic mapping results. Recent studies suggest that the technology and statistical methodology will soon be available to make well-powered studies feasible using any of these approaches.},
 bibtype = {article},
 author = {Freimer, N and Sabatti, C},
 journal = {Nat Genet},
 number = {10}
}

Paper  Website  abstract   bibtex   

@article{
 title = {Familial aggregation patterns in mathematical ability},
 type = {article},
 year = {2004},
 identifiers = {[object Object]},
 keywords = {*Aptitude,*Mathematics,*Models, Genetic,Aptitude Tests/statistics & numerical data,Case-Control Studies,Child,Female,Genotype,Humans,Male,Phenotype,Psychometrics/statistics & numerical data,Regression Analysis,Research Support, Non-U.S. Gov't,Research Support, U.S. Gov't, P.H.S.,Social Environment},
 pages = {51-62},
 volume = {34},
 websites = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=14739696},
 id = {10866388-69b6-3ade-90db-9353a32702d0},
 created = {2017-06-19T13:45:19.655Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:45:19.876Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>0001-8244<m:linebreak/>Journal Article</m:note>},
 abstract = {Mathematical talent is an asset in modern society both at an individual and a societal level. Environmental factors such as quality of mathematics education undoubtedly affect an individual's performance, and there is some evidence that genetic factors also may play a role. The current study was performed to investigate the feasibility of undertaking genetics studies on mathematical ability. Because the etiology of low ability in mathematics is likely to be multifactorial and heterogeneous, we evaluated families ascertained through a proband with high mathematical performance in grade 7 on the SAT to eliminate, to some degree, adverse environmental factors. Families of sex-matched probands, selected for high verbal performance on the SAT, served as the comparison group. We evaluated a number of proxy measures for their usefulness in the study of clustering of mathematical talent. Given the difficulty of testing mathematics performance across developmental ages, especially with the added complexity of decreasing exposure to formal mathematics concepts post schooling, we also devised a semiquantitative scale that incorporated educational, occupational, and avocational information as a surrogate for an academic mathematics measure. Whereas several proxy measures showed no evidence of a genetic basis, we found that the semiquantitative scale of mathematical talent showed strong evidence of a genetic basis, with a differential response as a function of the performance measure used to select the proband. This observation suggests that there may be a genetic basis to specific mathematical talent, and that specific, as opposed to proxy, investigative measures that are designed to measure such talent in family members could be of benefit for this purpose.},
 bibtype = {article},
 author = {Wijsman, E M and Robinson, N M and Ainsworth, K H and Rosenthal, E A and Holzman, T and Raskind, W H},
 journal = {Behav Genet},
 number = {1}
}

@Article{Prinz2004,
  author   = {Astrid A Prinz and Dirk Bucher and Eve Marder},
  journal  = {Nat Neurosci},
  title    = {Similar network activity from disparate circuit parameters.},
  year     = {2004},
  number   = {12},
  pages    = {1345-52},
  volume   = {7},
  abstract = {It is often assumed that cellular and synaptic properties need to
	be regulated to specific values to allow a neuronal network to function
	properly. To determine how tightly neuronal properties and synaptic
	strengths need to be tuned to produce a given network output, we
	simulated more than 20 million versions of a three-cell model of
	the pyloric network of the crustacean stomatogastric ganglion using
	different combinations of synapse strengths and neuron properties.
	We found that virtually indistinguishable network activity can arise
	from widely disparate sets of underlying mechanisms, suggesting that
	there could be considerable animal-to-animal variability in many
	of the parameters that control network activity, and that many different
	combinations of synaptic strengths and intrinsic membrane properties
	can be consistent with appropriate network performance.},
  doi      = {10.1038/nn1352},
  keywords = {Action Potentials, Animals, Comparative Study, Crustacea, Nerve Net, Neurons, Research Support, Non-U.S. Gov't, U.S. Gov't, P.H.S., Synapses, 15643435},
}

Paper  abstract   bibtex   

@article{
 title = {Integration of new genetic diseases into statewide newborn screening: New England experience},
 type = {article},
 year = {2004},
 identifiers = {[object Object]},
 keywords = {*Genetic Screening,*Neonatal Screening,Child Health Services/*utilization,Cohort Studies,Female,Forecasting,Genetic Diseases, Inborn/*diagnosis/*epidemiology/,Humans,Incidence,Infant, Newborn,Male,New England/epidemiology,Referral and Consultation,Research Support, Non-U.S. Gov't,Research Support, U.S. Gov't, P.H.S.},
 pages = {35-41},
 volume = {125},
 id = {0b819a17-8ce1-3aa3-a216-eb21724c23b0},
 created = {2017-06-19T13:46:15.484Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:46:15.615Z},
 tags = {04/12/23},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>Journal Article</m:note>},
 abstract = {Using a data set of newborn screening specimens tested by the New England Newborn Screening Program (NENSP) between January 1999 and February 2003, we analyzed the number of infants with positive newborn screening results and determined how many positive screening results were due to a recent multiplex expansion of services in some of the states. We found that for the subset of the 4-year cohort for which there was a 233% increase in the number of disorders screened (from 9 to 30 disorders), there was a 31% increase in the number of affected infants identified by the screen. We project that if all states in the program expanded their services and if the incidence of disorders is similar across states, there would be an observed 45% increase in the number of infants detected by the screen and a 43% increase in the number of infants for whom the screening algorithm would require some contact with the infants' health care provider. Furthermore, of those requiring contact, we project a 300% increase in the number of screened-positive infants who would be referred to tertiary care centers for a diagnostic evaluation. Increased contact with the medical community from additions to newborn screening as demonstrated in this report emphasizes the need for an approach in which the newborn screening program assures coordinated communications between birth units, laboratory, primary health care providers, and specialists.},
 bibtype = {article},
 author = {Comeau, A M and Larson, C and Eaton, R B},
 journal = {Am J Med Genet C Semin Med Genet},
 number = {1}
}

Paper  Website  abstract   bibtex   

@article{
 title = {Genetic influences on life span and survival among elderly African-Americans, Caribbean Hispanics, and Caucasians},
 type = {article},
 year = {2004},
 identifiers = {[object Object]},
 keywords = {*Aging,African Continental Ancestry Group,Age Factors,Aged,Aged, 80 and over,American Native Continental Ancestry Group,Ethnic Groups,European Continental Ancestry Group,Family Health,Female,Humans,Life Expectancy,Longevity/*genetics,Male,Mortality/trends,Phenotype,Research Support, Non-U.S. Gov't,Research Support, U.S. Gov't, P.H.S.,Time Factors},
 pages = {159-164},
 volume = {128},
 websites = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15214008},
 id = {b2cb8c67-255b-3506-ac30-a239fded12f8},
 created = {2017-06-19T13:46:05.521Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:46:05.760Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>1552-4825<m:linebreak/>Journal Article</m:note>},
 abstract = {An investigation of the genetic influences on life span and survival was conducted among elderly African-Americans, Caribbean Hispanics, and Caucasians Medicare recipients (ages 65-104 years). Family history information on 13,161 parents and siblings was obtained. Heritability of life span varied by the age and by ethnic group being lowest for African-Americans. We recalculated the heritability coefficients for life span including only probands and their siblings, but the differences across ethnic groups persisted. In contrast the heritability of survival was more similar across ethnic groups but was similar to that for life span. Heritability coefficients for survival in probands and their siblings revealed little difference between ethnic groups and suggested that as much as 35% of the variation in survival may be genetically influenced. These results indicate that life span and survival are genetically influenced. Comparisons across generations and ethnic groups indicate that changes in environmental hygiene, social welfare, and health care systems are significant contributors to life span and survival, but genetic influences are also important. Identifying the genes associated with life span and survival will provide insight into how the genes interact with environment to influence aging in humans.},
 bibtype = {article},
 author = {Lee, J H and Flaquer, A and Costa, R and Andrews, H and Cross, P and Lantigua, R and Schupf, N and Tang, M X and Mayeux, R},
 journal = {Am J Med Genet A},
 number = {2}
}

Paper  abstract   bibtex   

@article{
 title = {Inherited predisposition to cancer: a historical overview},
 type = {article},
 year = {2004},
 identifiers = {[object Object]},
 keywords = {*Genetic Predisposition to Disease,Animals,Breast Neoplasms/genetics/history,Colorectal Neoplasms/genetics/history,Disease Models, Animal,Female,History, 16th Century,History, 17th Century,History, 18th Century,History, 19th Century,History, 20th Century,History, 21st Century,Humans,Melanoma/genetics/history,Mice,Multiple Endocrine Neoplasia/genetics/history,Neoplasms/genetics/*history,Neoplastic Syndromes, Hereditary/genetics/history,Neurofibromatoses/genetics/history,Ovarian Neoplasms/genetics/history,Pedigree,Research Support, Non-U.S. Gov't,Research Support, U.S. Gov't, P.H.S.},
 pages = {5-22},
 volume = {129},
 id = {5f862351-2567-3707-974d-716b65d7ce69},
 created = {2017-06-19T13:44:11.335Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:44:11.444Z},
 tags = {04/12/17},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>Historical Article<m:linebreak/>Journal Article</m:note>},
 abstract = {The hereditary predisposition to cancer dates historically to interest piqued by physicians as well as family members wherein striking phenotypic features were shown to cluster in families, inclusive of the rather grotesque cutaneous findings in von Recklinghausen's neurofibromatosis, which date back to the sixteenth century. The search for the role of primary genetic factors was heralded by studies at the infrahuman level, particularly on laboratory mouse strains with strong susceptibility to carcinogen-induced cancer, and conversely, with resistance to the same carcinogens. These studies, developed in the 19th and 20th centuries, continue today. This article traces the historical aspects of hereditary cancer dealing with identification and ultimate molecular genetic confirmation of commonly occurring cancers, particularly of the colon in the case of familial adenomatous polyposis and its attenuated form, both due to the APC germline mutation; the Lynch syndrome due to mutations in mismatch repair genes, the most common of which were found to be MSH2, MLH1, and MSH6 germline mutations; the hereditary breast-ovarian cancer syndrome with BRCA1 and BRCA2 germline mutations; the Li-Fraumeni (SBLA) syndrome due to the p53 mutation; and the familial atypical multiple mole melanoma in association with pancreatic cancer due to the CDKN2A (p16) germline mutation. These and other hereditary cancer syndromes have been discussed in some detail relevant to their characterization, which, for many conditions, took place in the late 18th century and, in the more modern molecular genetic era, during the past two decades. Emphasis has been placed upon the manner in which improved cancer control will emanate from these discoveries. Copyright 2004 Wiley-Liss, Inc.},
 bibtype = {article},
 author = {Lynch, H T and Shaw, T G and Lynch, J F},
 journal = {Am J Med Genet C Semin Med Genet},
 number = {1}
}

Paper  abstract   bibtex   

@article{
 title = {Identification of multiple loci for Alzheimer disease in a consanguineous Israeli-Arab community},
 type = {article},
 year = {2003},
 identifiers = {[object Object]},
 keywords = {Aged,Aged, 80 and over,Alleles,Alzheimer Disease/*genetics,Arabs,Chromosome Mapping,Chromosomes, Human, Pair 10,Chromosomes, Human, Pair 12,Chromosomes, Human, Pair 2,Chromosomes, Human, Pair 9,Consanguinity,Dementia, Vascular/*genetics,Female,Gene Frequency,Genetic Markers,Genome, Human,Genotype,Heterozygote,Homozygote,Human,Israel,Linkage (Genetics),Lod Score,Male,Models, Genetic,Sequence Analysis, DNA,Support, Non-U.S. Gov't,Support, U.S. Gov't, P.H.S.},
 pages = {415-422},
 volume = {12},
 id = {cf9eab61-8a7f-38db-bc5f-f874a28d4f14},
 created = {2017-06-19T13:42:46.336Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:42:46.466Z},
 tags = {04/01/19},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>Journal Article</m:note>},
 abstract = {We have observed an unusually high prevalence of dementia of the Alzheimer type (DAT) in Wadi Ara, an inbred Arab community in northern Israel comprising approximately 850 persons over the age of 60 years. Family studies revealed that more than one-third of the DAT cases are members of one hamula (tribal group) within Wadi Ara. To map chromosomal loci contributing to DAT susceptibility, we conducted a 10 cM scan in a series of five cases and five controls selected from this hamula. Markers from 18 chromosomal regions showed significant allelic association with DAT (P<0.05). Locations on chromosomes 2, 9 and 10 remained significant after testing additional affected and non-demented individuals. Significant associations were also observed for markers on chromosome 12 which overlap with a locus implicated in previous genome scans. Analysis of allele frequency distributions for 12 markers spanning 20 cM on chromosome 9 narrowed the possible location of an DAT susceptibility gene to a 13 cM interval between D9S157 and D9S259 (most significant result: P = 2.3 x 10(-7)). Analysis of 14 markers spanning 24 cM on chromosome 12 narrowed the possible location to a 14 cM interval distal to the LRP1 locus (most significant result: P = 1.3 x 10(-6)). Evidence for linkage on chromosome 9 stemmed primarily from excess homozygosity of marker alleles in cases compared with controls, suggesting that the gene at this location behaves in either a recessive or additive fashion. The unique characteristics of this community together with the emergent human genome data should allow for the rapid identification of DAT genes in these candidate regions.},
 bibtype = {article},
 author = {Farrer, L A and Bowirrat, A and Friedland, R P and Waraska, K and Korczyn, A D and Baldwin, C T},
 journal = {Hum Mol Genet},
 number = {4}
}

Paper  Website  abstract   bibtex   

@article{
 title = {The Newfoundland population: a unique resource for genetic investigation of complex diseases},
 type = {article},
 year = {2003},
 identifiers = {[object Object]},
 keywords = {Founder Effect,Genetic Diseases, Inborn/*genetics,Humans,Linkage Disequilibrium,Newfoundland,Research Support, Non-U.S. Gov't,Research Support, U.S. Gov't, P.H.S.},
 pages = {R167-72},
 volume = {12 Spec No},
 websites = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=12915452},
 id = {34260ac4-d189-380b-8915-f5843cf0047c},
 created = {2017-06-19T13:44:55.512Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:44:55.663Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>0964-6906 (Print)<m:linebreak/>Journal Article<m:linebreak/>Review</m:note>},
 abstract = {The population of the province of Newfoundland and Labrador is genetically isolated. This isolation is evidenced by an overabundance of several monogenic disorders. The Newfoundland population, like that of other isolates, is now the focus of interest for identification of genes implicated in common diseases. However, the utility of such populations for this purpose remains unproven. In this paper, we review the current genetic architecture of the province, with respect to geographic isolation, homogeneity, founder effect, genetic drift and extended linkage disequilibrium. Based on these factors, we propose that the population of Newfoundland offers many advantages for genetic mapping of common diseases, compared with admixed populations, and even compared with other isolates.},
 bibtype = {article},
 author = {Rahman, P and Jones, A and Curtis, J and Bartlett, S and Peddle, L and Fernandez, B A and Freimer, N B},
 journal = {Hum Mol Genet}
}

Paper  Website  abstract   bibtex   

@article{
 title = {Understanding the Determinants of Exceptional Longevity},
 type = {article},
 year = {2003},
 identifiers = {[object Object]},
 keywords = {*Longevity,Animals,Genes,Humans,Life Expectancy,Non-U.S. Gov't,P.H.S.,Phenotype,Research Support,U.S. Gov't},
 pages = {445-449},
 volume = {139},
 websites = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=12965974},
 id = {c5bf1b72-7d77-39e3-9bef-27367ae5c742},
 created = {2017-06-19T13:42:01.681Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:42:01.863Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>        <m:bold>From Duplicate 2 ( </m:bold>        <m:bold>          </m:bold><m:bold><m:italic>Understanding the determinants of exceptional longevity</m:italic></m:bold><m:bold>        </m:bold>        <m:bold> - Perls, T; Terry, D )<m:linebreak/>        </m:bold>        <m:linebreak/>1539-3704<m:linebreak/>Journal Article<m:linebreak/>Review<m:linebreak/>        <m:linebreak/>      </m:note>},
 abstract = {Centenarians represent an extreme of life expectancy. They achieve their exceptional longevity in part by lacking genetic variations linked to premature death. Pedigree studies have shown a substantial familial component in the ability to survive to extreme old age, and a recent study demonstrated a locus on chromosome 4 linked to exceptional longevity, indicating the likely existence of at least one longevity-enabling gene in humans. The children of centenarians have markedly reduced relative risks for age-related diseases, particularly heart disease, hypertension, and diabetes, and are a promising model for genetic and phenotypic studies of 1) aging slowly relative to the general population and 2) the delay of and perhaps escape from important age-related diseases. These studies and those of other mammals and lower organisms show great promise for the delineation of important environmental and genetic determinants of aging well.},
 bibtype = {article},
 author = {Perls, Thomas and Terry, Dellara},
 journal = {Ann Intern Med},
 number = {5 Pt 2}
}

Paper  Website  abstract   bibtex   

@article{
 title = {Predictors of mortality in 2,249 nonagenarians--the Danish 1905-Cohort Survey},
 type = {article},
 year = {2003},
 identifiers = {[object Object]},
 keywords = {Activities of Daily Living,Aged,Aged, 80 and over/*statistics & numerical data,Cohort Studies,Denmark/epidemiology,Female,Geriatric Assessment,Humans,Interviews,Male,Mortality/*trends,Predictive Value of Tests,Proportional Hazards Models,Research Support, Non-U.S. Gov't,Research Support, U.S. Gov't, P.H.S.,Risk Factors},
 pages = {1365-1373},
 volume = {51},
 websites = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=14511155},
 id = {fd707acd-8637-3890-90ca-bf1c90ed0a7a},
 created = {2017-06-19T13:45:56.028Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:45:56.207Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>0002-8614<m:linebreak/>Journal Article</m:note>},
 abstract = {OBJECTIVES: : To elucidate whether well-known predictions of mortality are reduced or even reversed, or whether mortality is a stochastic process in the oldest old. DESIGN: : A multidimensional survey of the Danish 1905 cohort conducted in 1998 with follow-up of vital status after 15 months. SETTING: : Denmark. PARTICIPANTS: : All Danes born in 1905, irrespective of physical and mental status were approached. Two thousand two hundred sixty-two persons of 3,600 participated in this survey. MEASUREMENTS: : Professional interviewers collected data concerning sociodemographic factors, smoking, alcohol consumption, body mass index, physical and cognitive performance, and health during a visit at the participant's residency. Cox regression models were used to evaluate predictors of mortality. RESULTS: : Five hundred seventy-nine (25.7%) of the 2,249 participants eligible for the analysis died during the 15 months follow-up. Multivariate analyses showed that marital status, education, smoking, obesity, consumption of alcohol, and number of self-reported diseases were not associated with mortality. Disability and cognitive impairment were significant risk factors in men and women. In addition poor self-rated health was associated with an increase in mortality in women. CONCLUSION: : In the oldest old, several known predictors of mortality, such as sociodemographic factors, smoking, and obesity, have lost their importance, but a high disability level, poor physical and cognitive performance, and self-rated health (women only), predict mortality, which shows that mortality in the oldest old is not a stochastic process.},
 bibtype = {article},
 author = {Nybo, H and Petersen, H C and Gaist, D and Jeune, B and Andersen, K and McGue, M and Vaupel, J W and Christensen, K},
 journal = {J Am Geriatr Soc},
 number = {10}
}

Paper  Website  abstract   bibtex   

@article{
 title = {Haplotype-based identification of a microsomal transfer protein marker associated with the human lifespan},
 type = {article},
 year = {2003},
 identifiers = {[object Object]},
 keywords = {Adolescent,Adult,Aged,Aged, 80 and over,Alleles,Apolipoproteins E/genetics,Biological Markers,Carrier Proteins/*genetics/physiology,Case-Control Studies,Chromosomes, Human, Pair 4/genetics,Cohort Studies,Female,Haplotypes/*genetics,Humans,Linkage (Genetics),Longevity/*genetics/physiology,Male,Microsomes/metabolism,Middle Aged,Polymorphism, Single Nucleotide,Research Support, Non-U.S. Gov't,Research Support, U.S. Gov't, P.H.S.},
 pages = {14115-14120},
 volume = {100},
 websites = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=14615589},
 id = {19afcf1f-96f6-3afa-965e-87a31fc6f81c},
 created = {2017-06-19T13:42:58.125Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:42:58.369Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>0027-8424<m:linebreak/>Journal Article</m:note>},
 abstract = {We previously reported a genomewide linkage study for human longevity using 308 long-lived individuals (LLI) (centenarians or near-centenarians) in 137 sibships and identified statistically significant linkage within chromosome 4 near microsatellite D4S1564. This interval spans 12 million bp and contains approximately 50 putative genes. To identify the specific gene and gene variants impacting lifespan, we performed a haplotype-based fine-mapping study of the interval. The resulting genetic association study identified a haplotype marker within microsomal transfer protein as a modifier of human lifespan. This same variant was tested in a second cohort of LLI from France, and although the association was not replicated, there was evidence for statistical distortion in the form of Hardy-Weinberg disequilibrium. Microsomal transfer protein has been identified as the rate-limiting step in lipoprotein synthesis and may affect longevity by subtly modulating this pathway. This study provides proof of concept for the feasibility of using the genomes of LLI to identify genes impacting longevity.},
 bibtype = {article},
 author = {Geesaman, B J and Benson, E and Brewster, S J and Kunkel, L M and Blanche, H and Thomas, G and Perls, T T and Daly, M J and Puca, A A},
 journal = {Proc Natl Acad Sci U S A},
 number = {24}
}

Paper  Website  abstract   bibtex   

@article{
 title = {Genetics of exceptional longevity},
 type = {article},
 year = {2003},
 identifiers = {[object Object]},
 keywords = {*Chromosomes, Human, Pair 4,Aged,Aged, 80 and over,Cardiovascular Diseases/blood/genetics,Family Health,Female,Genetic Predisposition to Disease,Humans,Life Style,Lipids/blood,Longevity/*genetics,Male,Pedigree,Phenotype,Research Support, Non-U.S. Gov't,Research Support, U.S. Gov't, P.H.S.,Twin Studies},
 pages = {725-730},
 volume = {38},
 websites = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=12855277},
 id = {ca8e1ddc-bf9e-3807-bd7a-10177e9fcb50},
 created = {2017-06-19T13:45:08.652Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:45:08.808Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>0531-5565<m:linebreak/>Journal Article</m:note>},
 abstract = {Centenarians exist at the extreme of life expectancy and are rare. A number of pedigree and molecular genetic studies indicate that a significant component of exceptional longevity is genetically influenced. Furthermore, the recent discovery of a genetic locus on chromosome 4 indicates the powerful potential of studying centenarians for genetic factors that significantly modulate aging and susceptibility to age-related diseases. These studies include siblings and children of centenarians. Siblings have a significantly increased propensity to achieve exceptional old age and have half the mortality risk of their birth cohort from young adulthood through extreme old age. The children of centenarians are emerging as a promising model for the genetic and phenotypic study of aging relatively slowly and the delay and perhaps escape of important age-related diseases.},
 bibtype = {article},
 author = {Perls, T and Terry, D},
 journal = {Exp Gerontol},
 number = {7}
}

@article{Weber2002,
  title = {Building an Asynchronous Web-Based Tool for Machine Learning Classification.},
  author = {Weber, Griffin and Vinterbo, Staal and {Ohno-Machado}, Lucila},
  year = {2002},
  journal = {JAMIA},
  volume = {Suppl. S},
  pages = {869--73},
  abstract = {Various unsupervised and supervised learning methods including support vector machines, classification trees, linear discriminant analysis and nearest neighbor classifiers have been used to classify high-throughput gene expression data. Simpler and more widely accepted statistical tools have not yet been used for this purpose, hence proper comparisons between classification methods have not been conducted. We developed free software that implements logistic regression with stepwise variable selection as a quick and simple method for initial exploration of important genetic markers in disease classification. To implement the algorithm and allow our collaborators in remote locations to evaluate and compare its results against those of other methods, we developed a user-friendly asynchronous web-based application with a minimal amount of programming using free, downloadable software tools. With this program, we show that classification using logistic regression can perform as well as other more sophisticated algorithms, and it has the advantages of being easy to interpret and reproduce. By making the tool freely and easily available, we hope to promote the comparison of classification methods. In addition, we believe our web application can be used as a model for other bioinformatics laboratories that need to develop web-based analysis tools in a short amount of time and on a limited budget.},
  copyright = {All rights reserved},
  pii = {D020001919},
  pubmedid = {12463949},
  keywords = {12463949,Algorithms,Anonymous Testing,Artificial Intelligence,Carcinoma,Child,Comparative Study,Computerized,Confidentiality,Databases,Diagnosis,Differential,Disclosure,DNA,Gene Expression,Gene Expression Profiling,Gene Expression Regulation,Genetic Markers,Humans,Internet,Logistic Models,Lung Neoplasms,Medical Records Systems,Multivariate Analysis,Neoplasm,Neoplasms,Neoplastic,Neural Networks (Computer),Non-U.S. Gov't,Oligonucleotide Array Sequence Analysis,P.H.S.,Privacy,Research Support,Rhabdomyosarcoma,Sarcoma,Small Cell,Software,U.S. Gov't},
  file = {/Users/staal/Documents/Zotero/storage/26TPF5RW/amia02-weber.pdf;/Users/staal/Documents/Zotero/storage/FRPABBPG/amia02-weber.pdf;/Users/staal/Documents/Zotero/storage/GME7HZA7/amia02-weber.pdf}
}

Paper  abstract   bibtex   

@article{
 title = {Linkage disequilibrium and the mapping of complex human traits},
 type = {article},
 year = {2002},
 identifiers = {[object Object]},
 keywords = {*Linkage Disequilibrium,Chromosome Mapping,Genetics, Population,Genome, Human,Haplotypes,Human,Support, U.S. Gov't, P.H.S.},
 pages = {19-24},
 volume = {18},
 id = {7d822191-046f-3d40-ba67-325d8361f589},
 created = {2017-06-19T13:45:30.585Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:45:30.763Z},
 tags = {03/07/22},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>Journal Article</m:note>},
 abstract = {The potential value of haplotypes defined by several single nucleotide polymorphisms has attracted recent interest. With sufficient linkage disequilibrium (LD), haplotypes could be used in association studies to map common alleles that might influence the susceptibility to common diseases, as well as for reconstructing the evolution of the genome. It has been proposed that a globally useful resource need only be based on high frequency variants, identified from a few modest samples. Rapid progress has been made in quantifying the pattern of human LD and haplotypes defined by such common variants within and among populations. However, the quality and utility of the proposed LD-based resource could be seriously compromised if important sampling and analytical factors are overlooked in its design. The LD map should be based on adequately justified criteria defined by sound population genetic principles.},
 bibtype = {article},
 author = {Weiss, K M and Clark, A G},
 journal = {Trends Genet},
 number = {1}
}

@article{Ohno-Machado2002,
  title = {Comparing Imperfect Measurements with the {{Bland-Altman}} Technique: Application in Gene Expression Analysis.},
  author = {{Ohno-Machado}, Lucila and Vinterbo, Staal and Dreiseitl, Stephen and Jenssen, Tor-Kristian and Kuo, Winston},
  year = {2002},
  journal = {JAMIA},
  volume = {Suppl. S},
  pages = {572--6},
  abstract = {Several problems in medicine and biology involve the comparison of two measurements made on the same set of cases. The problem differs from a calibration problem because no gold standard can be identified. Testing the null hypothesis of no relationship using measures of association is not optimal since the measurements are made on the same cases, and therefore correlation coefficients will tend to be significant. The descriptive Bland-Altman method can be used in exploratory analysis of this problem, allowing the visualization of gross systematic differences between the two sets of measurements. We utilize the method on three sets of matched observations and demonstrate its usefulness in detecting systematic variations between two measurement technologies to assess gene expression.},
  copyright = {All rights reserved},
  pii = {1833},
  pubmedid = {12463888},
  keywords = {12463888,Algorithms,Anonymous Testing,Artificial Intelligence,Bias (Epidemiology),Carcinoma,Child,Comparative Study,Computational Biology,Computerized,Confidentiality,Data Interpretation,Databases,Diagnosis,Differential,Disclosure,DNA,Gene Expression,Gene Expression Profiling,Gene Expression Regulation,Genetic Markers,Humans,Internet,Logistic Models,Lung Neoplasms,Medical Records Systems,Messenger,Multivariate Analysis,Neoplasm,Neoplasms,Neoplastic,Neural Networks (Computer),Non-U.S. Gov't,Oligonucleotide Array Sequence Analysis,P.H.S.,Privacy,Research Support,Rhabdomyosarcoma,RNA,Sarcoma,Small Cell,Software,Statistical,U.S. Gov't}
}

Website  abstract   bibtex   

@article{
 title = {Do children of long-lived parents age more successfully?},
 type = {article},
 year = {2002},
 identifiers = {[object Object]},
 keywords = {Age Distribution,Aged,Aged, 80 and over,Aging/*genetics/*physiology,Cognition/physiology,Cross-Sectional Studies,Denmark/epidemiology,Female,Genetics, Population,Hand Strength/physiology,Health Status,Humans,Interviews,Male,Middle Aged,Nuclear Family,Odds Ratio,Research Support, Non-U.S. Gov't,Research Support, U.S. Gov't, P.H.S.},
 pages = {334-339},
 volume = {13},
 websites = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11964936},
 id = {d2c3d7a4-58f6-3e99-95c4-c6ccb4863013},
 created = {2017-06-19T13:42:11.345Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:42:11.443Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>1044-3983<m:linebreak/>Journal Article<m:linebreak/>Meta-Analysis</m:note>},
 abstract = {BACKGROUND: Long-lived individuals are rare and may be selected in part for the genetic factors that promote successful aging. The children of long-lived parents may therefore age more successfully than the children of short-lived parents. METHODS: We used three major cross-sectional population-based surveys to study the association of parental longevity with successful aging in offspring. The measures of aging were hand-grip strength, cognitive performance (Mini Mental State Examination and a cognitive composite score), self-reported diseases, and self-rated health. RESULTS: For every additional 10 years the parents lived, their children's grip strength increased by 0.32 kg (95% CI = 0.00-0.63), Mini Mental State Examination score by 0.20 points (95% CI = 0.03-0.37), and cognitive composite score by 0.24 points (95% CI = 0.07-0.40). A 10-year increment of parental life was associated with a reduction by approximately 0.20 in the adjusted odds ratio for their children having each of the following conditions: diabetes; hypertension; ischemic heart disease; heart failure; stroke; or fair, poor, or very poor self-rated health. Almost all the effects were seen solely in the cohort of 70+-year-olds, but not among middle-aged or nonagenarian subjects. CONCLUSIONS: Parental life span is positively associated with the children's physical and cognitive functioning and avoidance of some of the common chronic diseases. However, the effects are small and are seen among offspring who are elderly, but not among the middle-aged or the oldest old.},
 bibtype = {article},
 author = {Frederiksen, H and McGue, M and Jeune, B and Gaist, D and Nybo, H and Skytthe, A and Vaupel, J W and Christensen, K},
 journal = {Epidemiology},
 number = {3}
}

Paper  abstract   bibtex   

@article{
 title = {Markers that discriminate between European and African ancestry show limited variation within Africa},
 type = {article},
 year = {2002},
 identifiers = {[object Object]},
 keywords = {*Genetic Markers,*Variation (Genetics),Africa/ethnology,Europe/ethnology,Humans,Research Support, U.S. Gov't, P.H.S.},
 pages = {566-569},
 volume = {111},
 id = {05e38c8d-1555-3384-9aa8-a0bffad707ac},
 created = {2017-06-19T13:44:10.325Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:44:10.477Z},
 tags = {04/12/23},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>Journal Article</m:note>},
 abstract = {Markers informative for ancestry are necessary for admixture mapping and improving case-control association analyses. In particular, African Americans are an admixed population for which genetic studies require accurately evaluating admixture. This will require markers that can be used in African Americans to determine if a given genomic region is of European or African ancestry. This report shows that, despite studies indicating high intra-African sequence variation, markers with large inter-ethnic differences have only small variations in allele distribution among divergent African populations and should be valuable for evaluating admixture in complex disease genetic studies.},
 bibtype = {article},
 author = {Collins-Schramm, H E and Kittles, R A and Operario, D J and Weber, J L and Criswell, L A and Cooper, R S and Seldin, M F},
 journal = {Hum Genet},
 number = {6}
}

@article{
 title = {Complex-trait genetics: emergence of multivariate strategies},
 type = {article},
 year = {2002},
 identifiers = {[object Object]},
 keywords = {Animal,Animals, Genetically Modified/*genetics,Chromosome Mapping,Cluster Analysis,Gene Expression Regulation, Developmental/genetics,Genomics,Human,Multivariate Analysis,Mutation/genetics,Oligonucleotide Array Sequence Analysis,Polygenic Inheritance/*genetics,Support, U.S. Gov't, Non-P.H.S.,Support, U.S. Gov't, P.H.S.,Variation (Genetics)/*genetics},
 pages = {478-85.},
 volume = {3},
 id = {b4837f15-b5b5-3ccc-9da3-832fdac51a93},
 created = {2017-06-19T13:42:59.448Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:42:59.637Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article<m:linebreak/>Review<m:linebreak/>Review, Tutorial</m:note>},
 abstract = {Complex traits, including many disease-related traits, are influenced by multiple genes. Bivariate approaches that associate one gene with one trait are yielding to multivariate methods to synthesize the effects of multiple genes, integrate results across independent studies, and aid in the identification of coordinated pathways and interactions between loci.},
 bibtype = {article},
 author = {Phillips, T J and Belknap, J K},
 journal = {Nat Rev Neurosci},
 number = {6}
}

@article{
 title = {Involvement of a cytochrome P450 monooxygenase in thaxtomin A biosynthesis by Streptomyces acidiscabies},
 type = {article},
 year = {2002},
 keywords = {Amino Acid Sequence,Cytochrome P-450 Enzyme System,DNA, Bacterial,Escherichia coli,Indoles,Models, Molecular,Molecular Sequence Data,Piperazines,Sequence Homology, Amino Acid,Streptomyces,Streptomyces acidiscabies,Support, U.S. Gov't, Non-P.H.S.,adenylation,article,biosynthesis,catalysis,controlled study,cyclization,cytochrome P450,enzyme purification,esterification,gene product,hemoprotein,herbicide,high performance liquid chromatography,hydroxylation,methylation,molecular cloning,nonhuman,nuclear magnetic resonance spectroscopy,priority journal,reaction analysis,sequence analysis,sequence homology,thaxtomin A,unclassified drug,unspecific monooxygenase},
 pages = {2019-2029},
 volume = {184},
 id = {c32a38c2-6d3c-3187-aaf0-25bec11fbaee},
 created = {2012-01-05T13:05:41.000Z},
 file_attached = {false},
 profile_id = {1a467167-0a41-3583-a6a3-034c31031332},
 group_id = {0e532975-1a47-38a4-ace8-4fe5968bcd72},
 last_modified = {2015-03-05T16:01:49.000Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 abstract = {The biosynthesis of the thaxtomin cyclic dipeptide phytotoxins proceeds nonribosomally via the thiotemplate mechanism. Acyladenylation, thioesterification, N-methylation, and cyclization of two amino acid substrates are catalyzed by the txtAB-encoded thaxtomin synthetase. Nucleotide sequence analysis of the region 3? of txtAB in Streptomyces acidiscabies 84.104 identified an open reading frame (ORF) encoding a homolog of the P450 monooxygenase gene family. It was proposed that thaxtomin A phenylalanyl hydroxylation was catalyzed by the monooxygenase homolog. The ORF was mutated in S. acidiscabies 84.104 by using an integrative gene disruption construct, and culture filtrate extracts of the mutant were assayed for the presence of dehydroxy derivatives of thaxtomin A. Reversed-phase high-performance liquid chromatography (HPLC) and HPLC-mass spectrometry indicated that the major component in culture filtrate extracts of the mutant was less polar and smaller than thaxtomin A. Comparisons of electrospray mass spectra as well as 1H- and 13C-nuclear magnetic resonance spectra of the purified compound with those previously reported for thaxtomins confirmed the structure of the compound as 12,15-N-dimethylcyclo-(L-4-nitrotryptophyl-L-phenylalanyl), the didehydroxy analog of thaxtomin A. The ORF, designated txtC, was cloned and the recombinant six-His-tagged fusion protein produced in Escherichia coli and purified from cell extracts. TxtC produced in E. coli exhibited spectral properties similar to those of cytochrome P450-type hemoproteins that have undergone conversion to the catalytically inactive P420 form. Based on these properties and the high similarity of TxtC to other well-characterized P450 enzymes, we conclude that txtC encodes a cytochrome P450-type monooxygenase required for postcyclization hydroxylation of the cyclic dipeptide.},
 bibtype = {article},
 author = {Healy, F G and Krasnoff, S B and Wach, M and Gibson, D M and Loria, R},
 journal = {Journal of Bacteriology},
 number = {7}
}

@article{
 title = {Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa},
 type = {article},
 year = {2002},
 identifiers = {[object Object]},
 keywords = {*Founder Effect,*Genetics, Population,Haplotypes,Human,Molecular Sequence Data,Multidrug Resistance-Associated Proteins/genetics,Mutation,Pedigree,Prevalence,Pseudoxanthoma Elasticum/epidemiology/ethnology/*g,South Africa/epidemiology,Support, Non-U.S. Gov't,Support, U.S. Gov't, P.H.S.},
 pages = {331-8.},
 volume = {111},
 id = {f9c39121-c1f6-3af6-9370-5ac65c1d3a3f},
 created = {2017-06-19T13:45:55.928Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:45:56.050Z},
 tags = {03/01/08},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 abstract = {Pseudoxanthoma elasticum (PXE) is a heritable elastic tissue disorder recently shown to be attributable to mutations in the ABCC6 ( MRP6) gene. Whereas PXE has been identified in all ethnic groups studied to date, the prevalence of this disease in various populations is uncertain, although often assumed to be similar. A notable exception however is the prevalence of PXE among South African Afrikaners. A previous report has suggested that a founder effect may explain the higher prevalence of PXE in Afrikaners, a European-derived population that first settled in South Africa in the 17th century. To investigate this hypothesis, we performed haplotype and mutational analysis of DNA from 24 South African families of Afrikaner, British and Indian descent. Among the 17 Afrikaner families studied, three common haplotypes and six different disease-causing variants were identified. Three of these mutant alleles were missense variants, two were nonsense mutations and one was a single base-pair insertion. The most common variant accounted for 53% of the PXE alleles, whereas other mutant alleles appeared at lower frequencies ranging from 3% to 12%. Haplotype analysis of the Afrikaner families showed that the three most frequent mutations were identical-by-descent, indicating a founder origin of PXE in this population.},
 bibtype = {article},
 author = {Le Saux, O and Beck, K and Sachsinger, C and Treiber, C and Goring, H H and Curry, K and Johnson, E W and Bercovitch, L and Marais, A S and Terry, S F and Viljoen, D L and Boyd, C D},
 journal = {Hum Genet},
 number = {4-5}
}

@article{
 title = {Detection and integration of genotyping errors in statistical genetics},
 type = {article},
 year = {2002},
 identifiers = {[object Object]},
 keywords = {*Research Design,Algorithms,Chromosome Mapping/*methods/*statistics & numerica,Female,Founder Effect,Genotype,Human,Male,Markov Chains,Models, Genetic,Monte Carlo Method,Paternity,Pedigree,Software,Stochastic Processes,Support, Non-U.S. Gov't,Support, U.S. Gov't, P.H.S.,Twins/genetics},
 pages = {496-508.},
 volume = {70},
 id = {b262edab-cee0-3ece-9422-204543cc6997},
 created = {2017-06-19T13:43:39.090Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:43:39.209Z},
 tags = {02/04/26},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 abstract = {Detection of genotyping errors and integration of such errors in statistical analysis are relatively neglected topics, given their importance in gene mapping. A few inopportunely placed errors, if ignored, can tremendously affect evidence for linkage. The present study takes a fresh look at the calculation of pedigree likelihoods in the presence of genotyping error. To accommodate genotyping error, we present extensions to the Lander-Green-Kruglyak deterministic algorithm for small pedigrees and to the Markov-chain Monte Carlo stochastic algorithm for large pedigrees. These extensions can accommodate a variety of error models and refrain from simplifying assumptions, such as allowing, at most, one error per pedigree. In principle, almost any statistical genetic analysis can be performed taking errors into account, without actually correcting or deleting suspect genotypes. Three examples illustrate the possibilities. These examples make use of the full pedigree data, multiple linked markers, and a prior error model. The first example is the estimation of genotyping error rates from pedigree data. The second-and currently most useful-example is the computation of posterior mistyping probabilities. These probabilities cover both Mendelian-consistent and Mendelian-inconsistent errors. The third example is the selection of the true pedigree structure connecting a group of people from among several competing pedigree structures. Paternity testing and twin zygosity testing are typical applications.},
 bibtype = {article},
 author = {Sobel, E and Papp, J C and Lange, K},
 journal = {Am J Hum Genet},
 number = {2}
}

Paper  abstract   bibtex   

@article{
 title = {Quantitative-trait homozygosity and association mapping and empirical genomewide significance in large, complex pedigrees: fasting serum-insulin level in the Hutterites},
 type = {article},
 year = {2002},
 identifiers = {[object Object]},
 keywords = {*Homozygote,*Quantitative Trait,Alleles,Chromosome Mapping/*methods/statistics & numerical,Chromosomes, Human, Pair 1/genetics,Chromosomes, Human, Pair 16/genetics,Chromosomes, Human, Pair 19/genetics,Ethnic Groups/*genetics,Fasting/*blood,Female,Founder Effect,Genome, Human,Human,Insulin/*blood,Linkage (Genetics)/genetics,Male,Models, Genetic,Pedigree,Religion,South Dakota,Support, Non-U.S. Gov't,Support, U.S. Gov't, Non-P.H.S.,Support, U.S. Gov't, P.H.S.},
 pages = {920-34.},
 volume = {70},
 id = {2ee00d5b-83ae-3815-a3f4-0ce579a6a854},
 created = {2017-06-19T13:42:58.466Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:42:58.625Z},
 tags = {02/06/17},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 abstract = {We present methods for linkage and association mapping of quantitative traits for a founder population with a large, known genealogy. We detect linkage to quantitative-trait loci (QTLs) through a multipoint homozygosity-mapping method. We propose two association methods, one of which is single point and uses a general two-allele model and the other of which is multipoint and uses homozygosity by descent for a particular allele. In all three methods, we make extensive use of the pedigree and genotype information, while keeping the computations simple and efficient. To assess significance, we have developed a permutation-based test that takes into account the covariance structure due to relatedness of individuals and can be used to determine empirical genomewide and locus-specific P values. In the case of multivariate-normally distributed trait data, the permutation-based test is asymptotically exact. The test is broadly applicable to a variety of mapping methods that fall within the class of linear statistical models (e.g., variance-component methods), under the assumption of random ascertainment with respect to the phenotype. For obtaining genomewide P values, our proposed method is appropriate when positions of markers are independent of the observed linkage signal, under the null hypothesis. We apply our methods to a genome screen for fasting insulin level in the Hutterites. We detect significant genomewide linkage on chromosome 19 and suggestive evidence of QTLs on chromosomes 1 and 16.},
 bibtype = {article},
 author = {Abney, M and Ober, C and McPeek, M S},
 journal = {Am J Hum Genet},
 number = {4}
}

Paper  abstract   bibtex   

@article{
 title = {After BRCA1 and BRCA2-what next? Multifactorial segregation analyses of three-generation, population-based Australian families affected by female breast cancer},
 type = {article},
 year = {2001},
 identifiers = {[object Object]},
 keywords = {Age Factors,Age of Onset,Australia,BRCA1 Protein/*genetics,BRCA2 Protein,Breast Neoplasms/*genetics,Cohort Studies,Family Health,Female,Heterozygote,Human,Male,Models, Genetic,Molecular Sequence Data,Mutation,Neoplasm Proteins/*genetics,Pedigree,Probability,Risk Factors,Statistics,Support, Non-U.S. Gov't,Support, U.S. Gov't, P.H.S.,Transcription Factors/*genetics},
 pages = {420-31.},
 volume = {68},
 id = {23f12ce0-3889-312a-be6e-926c320ad4f9},
 created = {2017-06-19T13:45:18.919Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:45:19.048Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 abstract = {Mutations in BRCA1 and BRCA2 that cause a dominantly inherited high risk of female breast cancer seem to explain only a small proportion of the aggregation of the disease. To study the possible additional genetic components, we conducted single-locus and two-locus segregation analyses, with and without a polygenic background, using three-generation families ascertained through 858 women with breast cancer diagnosed at age <40 years, ascertained through population cancer registries in Melbourne and Sydney, Australia. Extensive testing for deleterious mutations in BRCA1 and BRCA2, to date, has identified 34 carriers. Our analysis suggested that, after other possible unmeasured familial factors are adjusted for and the known BRCA1 and BRCA2 mutation carriers are excluded, there appears to be a residual dominantly inherited risk of female breast cancer in addition to that derived from mutations in BRCA1 and BRCA2. This study also suggests that there is a substantial recessively inherited risk of early-onset breast cancer. According to the best-fitting model, after excluding known carriers of mutations in BRCA1 and BRCA2, about 1/250 (95% confidence interval [CI] 1/500 to 1/125) women have a recessive risk of 86% (95% CI 69%-100%) by age 50 years and of almost 100% by age 60 years. Possible reasons that our study has implicated a novel strong recessive effect include our inclusion of data on lineal aunts and grandmothers, study of families ascertained through women with early-onset breast cancer, allowance for multiple familial factors in the analysis, and removal of families for whom the cause (i.e., BRCA1 or BRCA2) is known. Our findings may have implications for attempts to identify new breast cancer-susceptibility genes.},
 bibtype = {article},
 author = {Cui, J and Antoniou, A C and Dite, G S and Southey, M C and Venter, D J and Easton, D F and Giles, G G and McCredie, M R and Hopper, J L},
 journal = {Am J Hum Genet},
 number = {2}
}

@Article{Scholl2001b,
  author   = {B. J. Scholl},
  journal  = {Cognition},
  title    = {Objects and attention: {T}he state of the art.},
  year     = {2001},
  number   = {1-2},
  pages    = {1-46},
  volume   = {80},
  abstract = {What are the units of attention? In addition to standard models holding
	that attention can select spatial regions and visual features, recent
	work suggests that in some cases attention can directly select discrete
	objects. This paper reviews the state of the art with regard to such
	'object-based' attention, and explores how objects of attention relate
	to locations, reference frames, perceptual groups, surfaces, parts,
	and features. Also discussed are the dynamic aspects of objecthood,
	including the question of how attended objects are individuated in
	time, and the possibility of attending to simple dynamic motions
	and events. The final sections of this review generalize these issues
	beyond vision science, to other modalities and fields such as auditory
	objects of attention and the infant's 'object concept'.},
  keywords = {80 and over, Adenoviridae, Adolescent, Adult, Aged, Analysis of Variance, Animals, Attention, Auditory Perception, Biopsy, Bone Nails, Bone Neoplasms, Bone Screws, Bone Transplantation, Breast Neoplasms, Carcinoma, Child, Child Development, Cognition, Cohort Studies, Comparative Study, Concept Formation, Constriction, Esophageal Neoplasms, Female, Femoral Neck Fractures, Femoral Neoplasms, Femur Head, Femur Neck, Fibula, Follow-Up Studies, Fracture Fixation, Fractures, Gene Expression, Gene Transfer Techniques, Green Fluorescent Proteins, Hepatitis, Homologous, Humans, Inbred Strains, Infant, Injections, Internal, Intramedullary, Intravenous, Judgment, Knee Joint, Liver, Luminescent Proteins, Male, Meta-Analysis, Middle Aged, Models, Motion, Motion Perception, Needle, Neoplasms, Non-P.H.S., Non-U.S. Gov't, P.H.S., Perceptual Distortion, Portal Vein, Preschool, Problem Solving, Psychological, Radiation-Induced, Rats, Research Support, Retrospective Studies, Second Primary, Self Concept, Sensitivity and Specificity, Social Perception, Space Perception, Spontaneous, Squamous Cell, Students, Time Factors, Tomography, Transplantation, Treatment Outcome, U.S. Gov't, Visual Perception, X-Ray Computed, 11245838},
}

Paper  Website  abstract   bibtex   

@article{
 title = {Understanding human disease mutations through the use of interspecific genetic variation},
 type = {article},
 year = {2001},
 identifiers = {[object Object]},
 keywords = {*Evolution, Molecular,Amino Acids/genetics,Animals,Cattle,Cricetinae,Cystic Fibrosis Transmembrane Conductance Regulato,Databases, Nucleic Acid,Eye Proteins/genetics,Gene Frequency,Genetic Predisposition to Disease/*genetics,Glucosephosphate Dehydrogenase/genetics,Homeodomain Proteins/genetics,Humans,Leukocyte L1 Antigen Complex,Membrane Glycoproteins/genetics,Mice,Mutation,Neural Cell Adhesion Molecules/genetics,Paired Box Transcription Factors,Phenylalanine Hydroxylase/genetics,Phylogeny,Polymorphism, Single Nucleotide,Rats,Repressor Proteins/genetics,Research Support, Non-U.S. Gov't,Research Support, U.S. Gov't, Non-P.H.S.,Research Support, U.S. Gov't, P.H.S.,Species Specificity,Tumor Suppressor Proteins,Variation (Genetics)},
 pages = {2319-2328},
 volume = {10},
 websites = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11689479},
 id = {615db8bf-ae06-347d-a726-890771c0ab9a},
 created = {2017-06-19T13:46:04.109Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:46:04.233Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>0964-6906 (Print)<m:linebreak/>Journal Article</m:note>},
 abstract = {Data on replacement mutations in genes of disease patients exist in a variety of online resources. In addition, genome sequencing projects and individual gene sequencing efforts have led to the identification of disease gene homologs in diverse metazoan species. The availability of these two types of information provides unique opportunities to investigate factors that are important in the development of genetically based disease by contrasting long and short-term molecular evolutionary patterns. Therefore, we conducted an analysis of disease-associated human genetic variation for seven disease genes: the cystic fibrosis transmembrane conductance regulator, glucose-6-phosphate dehydrogenase, the neural cell adhesion molecule L1, phenylalanine hydroxylase, paired box 6, the X-linked retinoschisis gene and TSC2/tuberin. Our analyses indicate that disease mutations show definite patterns when examined from an evolutionary perspective. Human replacement mutations resulting in disease are overabundant at amino acid positions most conserved throughout the long-term history of metazoans. In contrast, human polymorphic replacement mutations and silent mutations are randomly distributed across sites with respect to the level of conservation of amino acid sites within genes. Furthermore, disease-causing amino acid changes are of types usually not observed among species. Using Grantham's chemical difference matrix, we find that amino acid changes observed in disease patients are far more radical than the variation found among species and in non-diseased humans. Overall, our results demonstrate the usefulness of evolutionary analyses for understanding patterns of human disease mutations and underscore the biomedical significance of sequence data currently being generated from various model organism genome sequencing projects.},
 bibtype = {article},
 author = {Miller, M P and Kumar, S},
 journal = {Hum Mol Genet},
 number = {21}
}

Paper  Website  abstract   bibtex   

@article{
 title = {Modern African ape populations as genetic and demographic models of the last common ancestor of humans, chimpanzees, and gorillas},
 type = {article},
 year = {2001},
 identifiers = {[object Object]},
 keywords = {*Phylogeny,*Variation (Genetics),Africa,Animals,Cell Nucleus/genetics,DNA, Mitochondrial/genetics,Evolution, Molecular,Genetics, Population,Gorilla gorilla/*genetics,Humans,Pan troglodytes/*genetics,Research Support, U.S. Gov't, Non-P.H.S.},
 pages = {475-480},
 volume = {92},
 websites = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11948214},
 id = {1feeff1b-7fe6-3f48-81c1-5b91c1b4bf58},
 created = {2017-06-19T13:43:49.239Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:43:49.377Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>0022-1503 (Print)<m:linebreak/>Journal Article</m:note>},
 abstract = {In order to fully understand human evolutionary history through the use of molecular data, it is essential to include our closest relatives as a comparison. We provide here estimates of nucleotide diversity and effective population size of modern African ape species using data from several independent noncoding nuclear loci, and use these estimates to make predictions about the nature of the ancestral population that eventually gave rise to the living species of African apes, including humans. Chimpanzees, bonobos, and gorillas possess two to three times more nucleotide diversity than modern humans. We hypothesize that the last common ancestor (LCA) of these species had an effective population size more similar to modern apes than modern humans. In addition, estimated dates for the divergence of the Homo, Pan, and Gorilla lineages suggest that the LCA may have had stronger geographic structuring to its mtDNA than its nuclear DNA, perhaps indicative of strong female philopatry or a dispersal system analogous to gorillas, where females disperse only short distances from their natal group. Synthesizing different classes of data, and the inferences drawn from them, allows us to predict some of the genetic and demographic properties of the LCA of humans, chimpanzees, and gorillas.},
 bibtype = {article},
 author = {Jensen-Seaman, M I and Deinard, A S and Kidd, K K},
 journal = {J Hered},
 number = {6}
}

Paper  abstract   bibtex   

@article{
 title = {Arteriel Pressure, Left Ventricular Mass, and Aldosterone in Essential Hypertension},
 type = {article},
 year = {2001},
 identifiers = {[object Object]},
 keywords = {Adult,African Continental Ancestry Group,Aldosterone/*blood,Blood Pressure,Body Mass Index,Canada,Circadian Rhythm,Comparative Study,Electrocardiography,European Continental Ancestry Group,Female,France/ethnology,Humans,Hypertension/blood/*physiopathology,Hypertrophy,Left Ventricular/*physiopathology,Male,Middle Aged,Obesity/blood/*physiopathology,P.H.S.,Potassium/blood,Renin/blood,Research Support,U.S. Gov't,United States,aldosterone may also,echocardiography ⅲ left ventricle,inde-,ldosterone is a potent,mineralocorticoid that promotes,of arterial pressure,on blood pressure,pendent of its effect,race ⅲ aldosterone ⅲ,renin activity,sodium retention and elevation,ⅲ obesity ⅲ plasma},
 pages = {845-850},
 volume = {37},
 id = {28e390f0-da47-3032-b97c-3d118d22b874},
 created = {2017-06-19T13:42:01.182Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:42:01.325Z},
 tags = {04/12/17},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>        <m:bold>From Duplicate 1 ( </m:bold>        <m:bold>          </m:bold><m:bold><m:italic>Arterial pressure, left ventricular mass, and aldosterone in essential hypertension</m:italic></m:bold><m:bold>        </m:bold>        <m:bold> - El-Gharbawy, A H; Nadig, V S; Kotchen, J M; Grim, C E; Sagar, K B; Kaldunski, M; Hamet, P; Pausova, Z; Gaudet, D; Gossard, F; Kotchen, T A )<m:linebreak/>        </m:bold>        <m:linebreak/>Journal Article<m:linebreak/>        <m:linebreak/>      </m:note>},
 abstract = {The purpose of the present study was to evaluate the relationship of aldosterone to blood pressure and left ventricular size in black American (n=109) and white French Canadian (n=73) patients with essential hypertension. Measurements were obtained with patients off antihypertensive medications and included 24-hour blood pressure monitoring, plasma renin activity and aldosterone, and an echocardiogram. Compared with the French Canadians, the black Americans had higher body mass indexes, higher systolic blood pressures, attenuated nighttime reduction of blood pressure, and lower serum potassium concentrations (P:<0.01 for each). Left ventricular mass index, posterior wall thickness, interventricular septal thickness, and relative wall thickness were also greater (P:<0.01 for each) in the black American patients. Supine and standing plasma renin activity was lower (P:<0.01 and P:<0.05, respectively) in the black Americans, whereas supine plasma aldosterone concentrations did not differ, and standing plasma aldosterone was greater (P:<0.05) in the black Americans (9.2+/-0.7 ng/dL) than in the French Canadians (7.3+/-0.6 ng/dL). In the black Americans, supine plasma aldosterone was positively correlated with nighttime systolic (r=0.30; P:<0.01) and diastolic (r=0.39; P:<0.001) blood pressures and inversely correlated with the nocturnal decline of systolic (r=-0.29; P:<0.01) and diastolic (r=-0.37; P:<0.001) blood pressures. In the black Americans, standing plasma aldosterone was positively correlated with left ventricular mass index (r=0.36; P:<0.001), posterior wall thickness (r=0.33; P:<0.01), and interventricular septal thickness (r=0.26; P:<0.05). When the black American patients were divided into obese and nonobese groups, significant correlations between plasma aldosterone and both blood pressure and cardiac mass were observed only in the obese. In the French Canadians, overall, plasma aldosterone did not correlate with either blood pressure or any measures of heart size. However, among obese French Canadians, supine plasma aldosterone correlated with nighttime diastolic (r=0.53, P:<0.02) and systolic (r=0.44, P:<0.01) blood pressures but not with cardiac mass. These results are consistent with the hypothesis that aldosterone contributes to elevated arterial pressure in obese black American and obese white French Canadian patients with essential hypertension and to the attenuated nocturnal decline of blood pressure and left ventricular hypertrophy in obese, hypertensive black Americans.},
 bibtype = {article},
 author = {El-gharbawy, Areeg H and Nadig, Vishwanatha S and Kotchen, Jane Morley and Grim, Clarence E and Sagar, Kiran B and Kaldunski, Mary and Hamet, Pavel and Pausova, Zdenka and Gaudet, Daniel and Gossard, Francis and Kotchen, Theodore A},
 journal = {Hypertension},
 number = {3}
}

@article{
 title = {Gene-environment interaction and affected sib pair linkage analysis},
 type = {article},
 year = {2001},
 identifiers = {[object Object]},
 keywords = {*Genetic Techniques,*Statistics,Chromosome Mapping/methods,Chromosomes, Human,Computer Simulation,Environment,Family Characteristics,Human,Linkage (Genetics)/*genetics,Models, Genetic,Models, Statistical,Research Design,Sample Size,Software,Support, U.S. Gov't, P.H.S.},
 pages = {34-46.},
 volume = {52},
 id = {f5da3546-996f-3a85-b422-945d0b2bd58d},
 created = {2017-06-19T13:42:47.084Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:42:47.168Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 abstract = {OBJECTIVES: Gene-environment (GxE) interaction influences risk for many complex disease traits. However, genome screens using affected sib pair linkage techniques are typically conducted without regard for GxE interaction. We propose a simple extension of the commonly used mean test and evaluate its power for several forms of GxE interaction. METHODS: We compute expected IBD sharing by sibling exposure profile, that is by whether two sibs are exposed (EE), unexposed (UU), or are discordant for exposure (EU). We describe a simple extension of the mean test, the "mean-interaction" test that utilizes heterogeneity in IBD sharing across EE, EU, and UU sib pairs in a test for linkage. RESULTS: The mean-interaction test provides greater power than the mean test for detecting linkage in the presence of moderate or strong GxE interaction, typically when the interaction relative risk (R(ge)) exceeds 3 or is less than 1/3. In the presence of strong interaction (R(ge) = 10), the required number of affected sib pairs to achieve 80% power for detecting linkage is approximately 30% higher when the environmental factor is ignored in the mean test, than when it is utilized in the mean-interaction test. CONCLUSION: Linkage methods that incorporate environmental data and allow for interaction can lead to increased power for localizing a disease gene involved in a GxE interaction.},
 bibtype = {article},
 author = {Gauderman, W J and Siegmund, K D},
 journal = {Hum Hered},
 number = {1}
}

@Article{Sigman2001,
  author   = {M Sigman and GA Cecchi and CD Gilbert and MO Magnasco},
  journal  = {Proc Natl Acad Sci U S A},
  title    = {On a common circle: {N}atural scenes and {G}estalt rules.},
  year     = {2001},
  number   = {4},
  pages    = {1935-40},
  volume   = {98},
  abstract = {To understand how the human visual system analyzes images, it is essential
	to know the structure of the visual environment. In particular, natural
	images display consistent statistical properties that distinguish
	them from random luminance distributions. We have studied the geometric
	regularities of oriented elements (edges or line segments) present
	in an ensemble of visual scenes, asking how much information the
	presence of a segment in a particular location of the visual scene
	carries about the presence of a second segment at different relative
	positions and orientations. We observed strong long-range correlations
	in the distribution of oriented segments that extend over the whole
	visual field. We further show that a very simple geometric rule,
	cocircularity, predicts the arrangement of segments in natural scenes,
	and that different geometrical arrangements show relevant differences
	in their scaling properties. Our results show similarities to geometric
	features of previous physiological and psychophysical studies. We
	discuss the implications of these findings for theories of early
	vision.},
  doi      = {10.1073/pnas.031571498},
  keywords = {Computing Methodologies, Human, Language, Learning, Mental Processes, Models, Theoretical, Stochastic Processes, Support, U.S. Gov't, Non-P.H.S., Cognition, Linguistics, Neural Networks (Computer), Practice (Psychology), Non-U.S. Gov't, Memory, Psychological, Task Performance and Analysis, Time Factors, Visual Perception, Adult, Attention, Discrimination Learning, Female, Male, Short-Term, Mental Recall, Orientation, Pattern Recognition, Visual, Perceptual Masking, Reading, Concept Formation, Form Perception, Animals, Corpus Striatum, Shrews, P.H.S., Visual Cortex, Visual Pathways, Acoustic Stimulation, Auditory Cortex, Auditory Perception, Cochlea, Ear, Gerbillinae, Glycine, Hearing, Neurons, Space Perception, Strychnine, Adolescent, Decision Making, Reaction Time, Astrocytoma, Brain Mapping, Brain Neoplasms, Cerebral Cortex, Electric Stimulation, Electrophysiology, Epilepsy, Temporal Lobe, Evoked Potentials, Frontal Lobe, Noise, Parietal Lobe, Scalp, Child, Language Development, Psycholinguistics, Brain, Perception, Speech, Vocalization, Animal, Discrimination (Psychology), Hippocampus, Rats, Calcium, Chelating Agents, Excitatory Postsynaptic Potentials, Glutamic Acid, Guanosine Diphosphate, In Vitro, Neuronal Plasticity, Pyramidal Cells, Receptors, AMPA, Metabotropic Glutamate, N-Methyl-D-Aspartate, Somatosensory Cortex, Synapses, Synaptic Transmission, Thionucleotides, Action Potentials, Calcium Channels, L-Type, Electric Conductivity, Entorhinal Cortex, Neurological, Long-Evans, Infant, Mathematics, Statistics, Probability Learning, Problem Solving, Psychophysics, Association Learning, Child Psychology, Habituation (Psychophysiology), Probability Theory, Analysis of Variance, Semantics, Symbolism, Behavior, Eye Movements, Macaca mulatta, Prefrontal Cortex, Cats, Dogs, Haplorhini, Photic Stimulation, Electroencephalography, Nervous System Physiology, Darkness, Grasshoppers, Light, Membrane Potentials, Neural Inhibition, Afferent, Picrotoxin, Vision, Deoxyglucose, Injections, Microspheres, Neural Pathways, Rhodamines, Choice Behavior, Speech Perception, Verbal Learning, Dominance, Cerebral, Fixation, Ocular, Language Tests, Random Allocation, Comparative Study, Saguinus, Sound Spectrography, Species Specificity, Audiometry, Auditory Threshold, Calibration, Data Interpretation, Statistical, Anesthesia, General, Electrodes, Implanted, Pitch Perception, Sound Localization, Paired-Associate Learning, Serial Learning, Auditory, Age Factors, Motion Perception, Brain Injuries, Computer Simulation, Blindness, Psychomotor Performance, Color Perception, Signal Detection (Psychology), Judgment, ROC Curve, Regression Analysis, Music, Probability, Arm, Cerebrovascular Disorders, Hemiplegia, Movement, Muscle, Skeletal, Myoclonus, Robotics, Magnetoencephalography, Phonetics, Software, Speech Production Measurement, Epilepsies, Partial, Laterality, Stereotaxic Techniques, Germany, Speech Acoustics, Verbal Behavior, Child Development, Instinct, Brain Stem, Coma, Diagnosis, Differential, Hearing Disorders, Hearing Loss, Central, Neuroma, Acoustic, Dendrites, Down-Regulation, Patch-Clamp Techniques, Wistar, Up-Regulation, Aged, Aphasia, Middle Aged, Cones (Retina), Primates, Retina, Retinal Ganglion Cells, Tympanic Membrane, Cell Communication, Extremities, Biological, Motor Activity, Rana catesbeiana, Spinal Cord, Central Nervous System, Motion, Motor Cortex, Intelligence, Macaca fascicularis, Adoption, Critical Period (Psychology), France, Korea, Magnetic Resonance Imaging, Multilingualism, Auditory Pathways, Cochlear Nerve, Loudness Perception, Neural Conduction, Sensory Thresholds, Sound, Language Disorders, Preschool, Generalization (Psychology), Vocabulary, Biophysics, Nerve Net, Potassium Channels, Sodium Channels, Cues, Differential Threshold, Arousal, Newborn, Sucking Behavior, Ferrets, Microelectrodes, Gestalt Theory, Mathematical Computing, Perceptual Closure, 11172054},
}

@article{
 title = {Definition of the phenotype},
 type = {article},
 year = {2001},
 identifiers = {[object Object]},
 keywords = {*Phenotype,Alleles,Diagnosis, Differential,Genetic Diseases, Inborn/*genetics,Human,Models, Genetic,Quantitative Trait,Support, U.S. Gov't, P.H.S.},
 pages = {69-76.},
 volume = {42},
 id = {68c80911-5976-3d86-9ea4-b8731a036710},
 created = {2017-06-19T13:45:43.256Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:45:43.360Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article<m:linebreak/>Review<m:linebreak/>Review, Tutorial</m:note>},
 abstract = {Definition of the phenotype is a key issue in designing any genetic study whose goal is to detect disease genes. This chapter describes strategies to increase the power to detect susceptibility loci for complex diseases. A narrowly defined disease phenotype can offer advantages over broad definitions. Studies of clinical disease can also benefit from judicious selection of endophenotypes and related quantitative traits for analysis. The effect of diagnostic and measurement error is also discussed; power is maximized when strategies to reduce error are incorporated into a study design.},
 bibtype = {article},
 author = {Rice, J P and Saccone, N L and Rasmussen, E},
 journal = {Adv Genet}
}

Paper  abstract   bibtex   

@article{
 title = {Broad and narrow heritabilities of quantitative traits in a founder population},
 type = {article},
 year = {2001},
 identifiers = {[object Object]},
 keywords = {*Founder Effect,*Quantitative Trait,Blood Pressure/genetics,Body Mass Index,Child, Preschool,Ethnic Groups/genetics,Genes, Dominant/genetics,Human,IgE/blood,Lipoprotein(a)/blood,Lipoproteins, HDL Cholesterol/blood,Lipoproteins, LDL Cholesterol/blood,Matched-Pair Analysis,Models, Genetic,Nuclear Family,Pedigree,Serotonin/blood,Support, Non-U.S. Gov't,Support, U.S. Gov't, Non-P.H.S.,Support, U.S. Gov't, P.H.S.,Triglycerides/blood,Variation (Genetics)/genetics},
 pages = {1302-7.},
 volume = {68},
 id = {9671cbc7-4489-3371-811d-75cdf464e79d},
 created = {2017-06-19T13:42:11.248Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:42:11.390Z},
 tags = {01/11/30},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 abstract = {Estimation of the components of variance for a quantitative trait allows one to evaluate both the degree to which genetics influences the trait and the trait's underlying genetic architecture. For particular traits, the estimates also may have implications for discriminating between potential models of selection and for choosing an appropriate model for linkage analysis. Using a recently developed method, we estimate the additive and dominance components of variance--or, equivalently, the narrow and broad sense heritabilities--of several traits in the Hutterites, a founder population with extensive genealogical records. As a result of inbreeding and because Hutterite individuals are typically related through multiple lines of descent, we expect that power to detect dominance variance will be increased relative to that in outbred studies. Furthermore, the communal lifestyle of the Hutterites allows us to evaluate the genetic influences in a relatively homogeneous environment. Four phenotypes had a significant dominance variance, resulting in a relatively high broad heritability. We estimated the narrow and broad heritabilities as being, respectively,.36 and.96 for LDL,.51 and 1.0 for serotonin levels, and.45 and.76 for fat free mass (FFM). There was no significant additive component for systolic blood pressure (SBP), resulting in a narrow heritability of 0 and a broad heritability of.45. There were several traits for which we found no significant dominance component, resulting in equal broad and narrow heritability estimates. These traits and their heritabilities are as follows: HDL,.63; triglycerides,.37; diastolic blood pressure,.21; immunoglobulin E,.63; lipoprotein(a),.77; and body-mass index,.54. The large difference between broad and narrow heritabilities for LDL, serotonin, FFM, and SBP are indicative of strong dominance effects in these phenotypes. To our knowledge, this is the first study to report an estimate of heritability for serotonin and to detect a dominance variance for LDL, FFM, and SBP.},
 bibtype = {article},
 author = {Abney, M and McPeek, M S and Ober, C},
 journal = {Am J Hum Genet},
 number = {5}
}

Paper  abstract   bibtex   

@article{
 title = {The discovery of single-nucleotide polymorphisms--and inferences about human demographic history},
 type = {article},
 year = {2001},
 identifiers = {[object Object]},
 keywords = {*Phylogeny,Bias (Epidemiology),Chromosomes, Human/genetics,Emigration and Immigration,Gene Frequency/genetics,Haplotypes/genetics,Human,Likelihood Functions,Monte Carlo Method,Polymorphism, Single Nucleotide/*genetics,Population Density,Sample Size,Support, U.S. Gov't, Non-P.H.S.,Support, U.S. Gov't, P.H.S.},
 pages = {1332-47.},
 volume = {69},
 id = {a852b2ce-cf7d-3bde-9e34-7a7f9a46738d},
 created = {2017-06-19T13:42:36.442Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:42:36.540Z},
 tags = {02/12/04},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 abstract = {A method of historical inference that accounts for ascertainment bias is developed and applied to single-nucleotide polymorphism (SNP) data in humans. The data consist of 84 short fragments of the genome that were selected, from three recent SNP surveys, to contain at least two polymorphisms in their respective ascertainment samples and that were then fully resequenced in 47 globally distributed individuals. Ascertainment bias is the deviation, from what would be observed in a random sample, caused either by discovery of polymorphisms in small samples or by locus selection based on levels or patterns of polymorphism. The three SNP surveys from which the present data were derived differ both in their protocols for ascertainment and in the size of the samples used for discovery. We implemented a Monte Carlo maximum-likelihood method to fit a subdivided-population model that includes a possible change in effective size at some time in the past. Incorrectly assuming that ascertainment bias does not exist causes errors in inference, affecting both estimates of migration rates and historical changes in size. Migration rates are overestimated when ascertainment bias is ignored. However, the direction of error in inferences about changes in effective population size (whether the population is inferred to be shrinking or growing) depends on whether either the numbers of SNPs per fragment or the SNP-allele frequencies are analyzed. We use the abbreviation "SDL," for "SNP-discovered locus," in recognition of the genomic-discovery context of SNPs. When ascertainment bias is modeled fully, both the number of SNPs per SDL and their allele frequencies support a scenario of growth in effective size in the context of a subdivided population. If subdivision is ignored, however, the hypothesis of constant effective population size cannot be rejected. An important conclusion of this work is that, in demographic or other studies, SNP data are useful only to the extent that their ascertainment can be modeled.},
 bibtype = {article},
 author = {Wakeley, J and Nielsen, R and Liu-Cordero, S N and Ardlie, K},
 journal = {Am J Hum Genet},
 number = {6}
}

Paper  abstract   bibtex   

@article{
 title = {Haplotype Diversity and Linkage Disequilibrium at Human G6PD : Recent Origin of Alleles that Confer Malarial Resistance},
 type = {article},
 year = {2001},
 identifiers = {[object Object]},
 keywords = {*Haplotypes,*Linkage Disequilibrium,*Variation (Genetics),Africa/epidemiology,Agriculture,Alleles,Animal,Endemic Diseases,Evolution,Falciparum/enzymology/epidemiology/geneti,Female,Glucosephosphate Dehydrogenase Deficiency/epidemio,Glucosephosphate Dehydrogenase/*genetics,Human,Immunity,Malaria,Malaria/enzymology/epidemiology/*genetics,Male,Mediterranean Region/epidemiology,Molecular,Mutation,Natural/genetics,Non-P.H.S.,Non-U.S. Gov't,P.H.S.,Plasmodium falciparum/genetics,Polymorphism,Restriction Fragment Length,Selection (Genetics),Support,Time,U.S. Gov't},
 pages = {455-462},
 volume = {293},
 id = {19378e15-ffdd-32ed-af01-0490c4366d0c},
 created = {2017-06-19T13:42:00.316Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:42:00.476Z},
 tags = {03/03/18},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>        <m:bold>From Duplicate 2 ( </m:bold>        <m:bold>          </m:bold><m:bold><m:italic>Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer malarial resistance</m:italic></m:bold><m:bold>        </m:bold>        <m:bold> - Tishkoff, S A; Varkonyi, R; Cahinhinan, N; Abbes, S; Argyropoulos, G; Destro-Bisol, G; Drousiotou, A; Dangerfield, B; Lefranc, G; Loiselet, J; Piro, A; Stoneking, M; Tagarelli, A; Tagarelli, G; Touma, E H; Williams, S M; Clark, A G )<m:linebreak/>        </m:bold>        <m:linebreak/>eng<m:linebreak/>Journal Article<m:linebreak/>        <m:linebreak/>      </m:note>},
 abstract = {The frequencies of low-activity alleles of glucose-6-phosphate dehydrogenase in humans are highly correlated with the prevalence of malaria. These "deficiency" alleles are thought to provide reduced risk from infection by the Plasmodium parasite and are maintained at high frequency despite the hemopathologies that they cause. Haplotype analysis of "A-" and "Med" mutations at this locus indicates that they have evolved independently and have increased in frequency at a rate that is too rapid to be explained by random genetic drift. Statistical modeling indicates that the A- allele arose within the past 3840 to 11,760 years and the Med allele arose within the past 1600 to 6640 years. These results support the hypothesis that malaria has had a major impact on humans only since the introduction of agriculture within the past 10,000 years and provide a striking example of the signature of selection on the human genome.},
 bibtype = {article},
 author = {Tishkoff, S A and Varkonyi, Robert and Cahinhinan, Nelie and Abbes, Salem and Argyropoulos, G and Destro-Bisol, G and Drousiotou, A and Dangerfield, B and Lefranc, G and Loiselet, J and Piro, A and Stoneking, M and Tagarelli, A and Tagarelli, G and Touma, E H and Williams, S M and Clark, A G and Tishoff, Sarah A},
 journal = {Science},
 number = {5529}
}

Website  abstract   bibtex   

@article{
 title = {Searching for human longevity genes: the future history of gerontology in the post-genomic era},
 type = {article},
 year = {2001},
 identifiers = {[object Object]},
 keywords = {Aged,Animals,Energy Intake,Environment,Geriatrics/*trends,Humans,Longevity/*genetics,Research Support, Non-U.S. Gov't,Research Support, U.S. Gov't, P.H.S.},
 pages = {M83-7},
 volume = {56},
 websites = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11213281},
 id = {f2621748-9b9b-3721-92d7-097220e491ac},
 created = {2017-06-19T13:45:08.392Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:45:08.495Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>1079-5006<m:linebreak/>Journal Article<m:linebreak/>Review<m:linebreak/>Review, Tutorial</m:note>},
 abstract = {Over the last 30 years, a number of genetic and environmental factors that lead to decreased length of life have been identified. Unfortunately, much less progress has been achieved in identifying genes associated with longevity that protect from common diseases or slow the aging process. Recent compelling evidence supports a role for important genetic and environmental interactions on longevity in lower organisms. Although less is known in humans, commonality in molecular and biological processes, evolutionary arguments, and epidemiological data would strongly suggest that similar mechanisms also apply. The completion of the Human Genome Project and the rapid innovations in technology will make possible the identification of human longevity-assurance genes. This article reviews such evidence, its implications for the identification of human longevity-assurance genes, and the significance of finding longevity genes to human health and disease.},
 bibtype = {article},
 author = {Barzilai, N and Shuldiner, A R},
 journal = {J Gerontol A Biol Sci Med Sci},
 number = {2}
}

@article{
 title = {Joint linkage and linkage disequilibrium mapping in natural populations},
 type = {article},
 year = {2001},
 identifiers = {[object Object]},
 keywords = {*Chromosome Mapping,*Linkage (Genetics),*Linkage Disequilibrium,*Models, Genetic,Alleles,Animal,Crosses, Genetic,Genes, Plant,Genetic Markers,Genetics, Population,Genotype,Human,Models, Statistical,Polymorphism (Genetics),Support, U.S. Gov't, P.H.S.},
 pages = {899-909.},
 volume = {157},
 id = {4c70be10-5210-3a42-a8bf-b84f35621cd5},
 created = {2017-06-19T13:43:39.414Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:43:39.530Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 abstract = {A new strategy for studying the genome structure and organization of natural populations is proposed on the basis of a combined analysis of linkage and linkage disequilibrium using known polymorphic markers. This strategy exploits a random sample drawn from a panmictic natural population and the open-pollinated progeny of the sample. It is established on the principle of gene transmission from the parental to progeny generation during which the linkage between different markers is broken down due to meiotic recombination. The strategy has power to simultaneously capture the information about the linkage of the markers (as measured by recombination fraction) and the degree of their linkage disequilibrium created at a historic time. Simulation studies indicate that the statistical method implemented by the Fisher-scoring algorithm can provide accurate and precise estimates for the allele frequencies, recombination fractions, and linkage disequilibria between different markers. The strategy has great implications for constructing a dense linkage disequilibrium map that can facilitate the identification and positional cloning of the genes underlying both simple and complex traits.},
 bibtype = {article},
 author = {Wu, R and Zeng, Z B},
 journal = {Genetics},
 number = {2}
}

Paper  Website  abstract   bibtex   

@article{
 title = {Measuring the genetic influence in modulating the human life span: gene-environment interaction and the sex-specific genetic effect},
 type = {article},
 year = {2001},
 identifiers = {[object Object]},
 keywords = {*Alleles,Environment,Female,Humans,Likelihood Functions,Longevity/*genetics,Male,Models, Genetic,Models, Statistical,Research Support, Non-U.S. Gov't,Research Support, U.S. Gov't, P.H.S.,Sex Factors},
 pages = {141-153},
 volume = {2},
 websites = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11708716},
 id = {37c066a1-3f0c-35de-ab01-43cba161ad5d},
 created = {2017-06-19T13:44:20.427Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:44:20.570Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>1389-5729<m:linebreak/>Journal Article</m:note>},
 abstract = {New approaches are needed to explore the different ways in which genes affect the human life span. One needs to assess the genetic effects themselves, as well as gene-environment interactions and sex dependency. In this paper, we present a new model that combines both genotypic and demographic information in the estimation of the genetic influence on life spans. Based on Cox's proportional hazard assumption, the model measures the risks for each gene as well as for gene-environment and gene-sex interactions, while controlling for confounding factors. A two-step MLE is introduced to obtain a non-parametric form of the baseline hazard function. The model is applied to genotypic data from Italian centenarian studies to estimate relative risks of candidate genes, risks due to interactions and initial frequencies of different genes in the population. Results from models that either do or do not take into consideration individual heterogeneity are compared. It is shown that ignoring the existence of heterogeneity can lead to a systematic underestimation of genetic effects and effects due to interactions.},
 bibtype = {article},
 author = {Tan, Q and De Benedictis, G and Yashi, A I and Bonafe, M and DeLuca, M and Valensin, S and Vaupel, J W and Franceschi, C},
 journal = {Biogerontology},
 number = {3}
}

@article{
 title = {Founder BRCA1 mutations and two novel germline BRCA2 mutations in breast and/or ovarian cancer families from North-Eastern Poland},
 type = {article},
 year = {2000},
 identifiers = {[object Object]},
 keywords = {*Founder Effect,Adult,Aged,Aged, 80 and over,BRCA1 Protein/*genetics,BRCA2 Protein,Breast Neoplasms/*genetics,Female,Genetic Markers/genetics,Germ-Line Mutation/*genetics,Human,Male,Middle Age,Neoplasm Proteins/*genetics,Ovarian Neoplasms/*genetics,Poland,Support, Non-U.S. Gov't,Support, U.S. Gov't, P.H.S.,Transcription Factors/*genetics},
 pages = {480-1.},
 volume = {15},
 id = {fffeb98c-4cdd-3ed3-a41a-4a351d41efdd},
 created = {2017-06-19T13:44:22.272Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:44:22.379Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 abstract = {Germline mutations in the BRCA1 and BRCA2 genes account for the majority of high-risk breast/ovarian cancer families, depending on the population studied. Previously, BRCA1 mutations were described in women from Western Poland. To further characterize the spectrum of BRCA1 mutations and the impact of BRCA2 mutations in Poland, we have analyzed 25 high-risk breast and/or ovarian cancer families from North-Eastern Poland for mutations in all coding exons of the BRCA1 and BRCA2 genes, using combined heteroduplex analysis/SSCP followed by direct DNA sequence analysis. Out of 25 probands a total of five (20%) carried three recurrent BRCA1 mutations (300T>G, 3819del5, 5382insC). The 300T>G mutation accounted for 60% (3/5) of BRCA1 mutations and allelotyping suggested a common founder of this mutation. No unique mutations were found. In addition, we identified three BRCA2 (12%) mutations, one recurrent 4075delGT, and two novel frameshift mutations, 7327ins/dupl19 and 9068delA. We conclude that 30% of high-risk families from North-Eastern Poland may be due to recurrent BRCA1 and unique BRCA2 mutations. Intriguingly, the BRCA1 mutation spectrum seems to be different within subregions of Poland.},
 bibtype = {article},
 author = {van Der Looij, M and Wysocka, B and Brozek, I and Jassem, J and Limon, J and Olah, E},
 journal = {Hum Mutat},
 number = {5}
}

Paper  abstract   bibtex   

@article{
 title = {Why are the majority of hereditary cases of early-onset breast cancer sporadic? A simulation study},
 type = {article},
 year = {2000},
 identifiers = {[object Object]},
 keywords = {Adult,Age Distribution,Age of Onset,Aged,Australia/epidemiology,Breast Neoplasms/*epidemiology/ethnology/*genetics,Computer Simulation,Family Health,Female,Gene Frequency,Genes, BRCA1,Great Britain/epidemiology,Human,Jews/statistics & numerical data,Middle Age,Models, Genetic,Mutation,Pedigree,Prevalence,Singapore/epidemiology,Support, Non-U.S. Gov't,Support, U.S. Gov't, P.H.S.,Washington/epidemiology},
 pages = {805-12.},
 volume = {9},
 id = {373ef46c-3714-3339-8c8d-5b9047cf28e7},
 created = {2017-06-19T13:44:21.419Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:44:21.571Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 abstract = {Population-based studies, including those of Ashkenazi Jews, have observed that at least 50% of women with early-onset breast cancer who carry a germ line mutation in BRCA1 or BRCA2 do not report a family history of the disease. That is, the majority of "hereditary" cases are "sporadic." Furthermore, the great majority of "familial breast cancers" are not hereditary. We conducted a simulation study to evaluate the probability that a woman with early-onset breast cancer is a mutation carrier, given the number of affected relatives, for a range of plausible values of allele frequency (0.001-0.01), and increased risk in mutation carriers (5-20, equivalent to cumulative risks to age 70 of 25-70%, respectively, for Australian women). Families consisted of a case proband and her mother, sisters, and maternal and paternal grandmothers, and aunts. The numbers of sisters and aunts were generated according to Poisson distributions, and ages were assigned according to a Weibull distribution. The simulated distributions of family history and of the prevalence of mutation carriers among case probands were in general similar to those observed in population-based studies, although there was a suggestion of heterogeneity of breast cancer risk in mutation carriers. As is being observed empirically in population-based samples, a family history of breast cancer was not a strong predictor of mutation status; each affected female relative increased the risk of being a mutation carrier by only 2- to 3-fold. The probability of being a mutation carrier was generally low, except in families with extreme histories of breast cancer.},
 bibtype = {article},
 author = {Cui, J and Hopper, J L},
 journal = {Cancer Epidemiol Biomarkers Prev},
 number = {8}
}

Paper  Website  abstract   bibtex   

@article{
 title = {The genetically isolated populations of Finland and sardinia may not be a panacea for linkage disequilibrium mapping of common disease genes},
 type = {article},
 year = {2000},
 identifiers = {[object Object]},
 keywords = {*Chromosomes, Human, Pair 18,*Linkage Disequilibrium,Chromosome Mapping,Diabetes Mellitus, Insulin-Dependent/*genetics,Finland,Genotype,Human,Italy,Microsatellite Repeats,Polymorphism (Genetics),Support, Non-U.S. Gov't,Support, U.S. Gov't, P.H.S.},
 pages = {320-3.},
 volume = {25},
 websites = {http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v25/n3/full/ng0700_320.html,http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v25/n3/abs/ng0700_320.html},
 id = {9844ac6c-5555-3386-a968-ad5f8216a4bf},
 created = {2017-06-19T13:44:56.225Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:44:56.367Z},
 tags = {01/11/30},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 abstract = {The choice of which population to study in the mapping of common disease genes may be critical. Isolated founder populations, such as that found in Finland, have already proved extremely useful for mapping the genes for specific rare monogenic disorders and are being used in attempts to map the genes underlying common, complex diseases. But simulation results suggest that, under the common disease-common variant hypothesis, most isolated populations will prove no more useful for linkage disequilibrium (LD) mapping of common disease genes than large outbred populations. There is very little empirical data to either support or refute this conclusion at present. Therefore, we evaluated LD between 21 common microsatellite polymorphisms on chromosome 18q21 in 2 genetic isolates (Finland and Sardinia) and compared the results with those observed in two mixed populations (United Kingdom and United States of America). Mean levels of LD were similar across all four populations. Our results provide empirical support for the expectation that genetic isolates like Finland and Sardinia will not prove significantly more valuable than general populations for LD mapping of common variants underlying complex disease.},
 bibtype = {article},
 author = {Eaves, I A and Merriman, T R and Barber, R A and Nutland, S and Tuomilehto-Wolf, E and Tuomilehto, J and Cucca, F and Todd, J A},
 journal = {Nat Genet},
 number = {3}
}

Paper  abstract   bibtex   

@article{
 title = {Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion},
 type = {article},
 year = {2000},
 identifiers = {[object Object]},
 keywords = {Africa, Northern,Alleles,Asia,Caucasoid Race/genetics,Europe,Founder Effect,Friedreich Ataxia/*ethnology/*genetics,Genetic Markers,Haplotypes,Linkage (Genetics),Middle East,Mongoloid Race/genetics,Negroid Race/genetics,Phosphotransferases (Alcohol Group Acceptor)/genet,Support, Non-U.S. Gov't,Support, U.S. Gov't, P.H.S.,Trinucleotide Repeat Expansion/*genetics},
 pages = {2322-4.},
 volume = {54},
 id = {5299f87a-7768-396d-8ed8-bb9f69d6cfb1},
 created = {2017-06-19T13:42:59.384Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:42:59.530Z},
 tags = {02/02/06},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 abstract = {The GAA triplet repeat expansion that causes Friedreich ataxia is found only in individuals of European, North African, Middle Eastern, or Indian origin (Indo-European and Afro-Asiatic speakers). Analysis of normal alleles of the GAA repeat and of closely linked markers suggests that expansions arose through a unique two-step process. A major implication of these findings is that Friedreich ataxia may not exist among sub-Saharan Africans, Amerindians, and people from China, Japan, and Southeast Asia.},
 bibtype = {article},
 author = {Labuda, M and Labuda, D and Miranda, C and Poirier, J and Soong, B W and Barucha, N E and Pandolfo, M},
 journal = {Neurology},
 number = {12}
}

@article{
 title = {BRCA1 and BRCA2 mutation analysis of 208 Ashkenazi Jewish women with ovarian cancer},
 type = {article},
 year = {2000},
 identifiers = {[object Object]},
 keywords = {*Founder Effect,Adult,Aged,Aged, 80 and over,Breast Neoplasms/epidemiology/genetics,DNA Mutational Analysis,Female,Gene Frequency/genetics,Genes, BRCA1/*genetics,Genetic Predisposition to Disease/genetics,Human,Incidence,Israel/epidemiology,Jews/*genetics,Male,Middle Age,Mutation/*genetics,Neoplasm Proteins/*genetics,Neoplasm Staging,North America/epidemiology,Ovarian Neoplasms/epidemiology/*genetics/mortality,Pedigree,Support, Non-U.S. Gov't,Support, U.S. Gov't, Non-P.H.S.,Support, U.S. Gov't, P.H.S.,Transcription Factors/*genetics},
 pages = {1259-72.},
 volume = {66},
 id = {0003dfc0-1df4-3102-829c-0f2e888b6744},
 created = {2017-06-19T13:45:32.120Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:45:32.249Z},
 tags = {01/11/30},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article<m:linebreak/>Multicenter Study</m:note>},
 abstract = {Ovarian cancer is a component of the autosomal-dominant hereditary breast-ovarian cancer syndrome and may be due to a mutation in either the BRCA1 or BRCA2 genes. Two mutations in BRCA1 (185delAG and 5382insC) and one mutation in BRCA2 (6174delT) are common in the Ashkenazi Jewish population. One of these three mutations is present in approximately 2% of the Jewish population. Each mutation is associated with an increased risk of ovarian cancer, and it is expected that a significant proportion of Jewish women with ovarian cancer will carry one of these mutations. To estimate the proportion of ovarian cancers attributable to founding mutations in BRCA1 and BRCA2 in the Jewish population and the familial cancer risks associated with each, we interviewed 213 Jewish women with ovarian cancer at 11 medical centers in North America and Israel and offered these women genetic testing for the three founder mutations. To establish the presence of nonfounder mutations in this population, we also completed the protein-truncation test on exon 11 of BRCA1 and exons 10 and 11 of BRCA2. We obtained a detailed family history on all women we studied who had cancer and on a control population of 386 Ashkenazi Jewish women without ovarian or breast cancer. A founder mutation was present in 41.3% of the women we studied. The cumulative incidence of ovarian cancer to age 75 years was found to be 6.3% for female first-degree relatives of the patients with ovarian cancer, compared with 2.0% for the female relatives of healthy controls (relative risk 3.2; 95% CI 1.5-6.8; P=.002). The relative risk to age 75 years for breast cancer among the female first-degree relatives was 2.0 (95% CI 1.4-3.0; P=.0001). Only one nonfounder mutation was identified (in this instance, in a woman of mixed ancestry), and the three founding mutations accounted for most of the observed excess risk of ovarian and breast cancer in relatives.},
 bibtype = {article},
 author = {Moslehi, R and Chu, W and Karlan, B and Fishman, D and Risch, H and Fields, A and Smotkin, D and Ben-David, Y and Rosenblatt, J and Russo, D and Schwartz, P and Tung, N and Warner, E and Rosen, B and Friedman, J and Brunet, J S and Narod, S A},
 journal = {Am J Hum Genet},
 number = {4}
}

Paper  abstract   bibtex   

@article{
 title = {Gene Mapping in the 20th and 21st Centuries : Statistical Methods , Data Analysis, and Experimental Design},
 type = {article},
 year = {2000},
 identifiers = {[object Object]},
 keywords = {*Data Interpretation,*Models,Algorithms,Chromosome Mapping/*methods/*trends,Environment,Forecasting,Genetic,Genetic Markers/genetics,Genetics,Genotype,Human,Likelihood Functions,Linkage Disequilibrium/genetics,Medical/*methods/*trends,Non-U.S. Gov't,P.H.S.,Pedigree,Phenotype,Quality of Life,Reproducibility of Results,Research Design/*trends,Statistical,Support,U.S. Gov't},
 pages = {63-132},
 volume = {72},
 id = {f667a7c8-144c-33b1-b2eb-5b9aac6d2875},
 created = {2017-06-19T13:42:01.817Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:42:02.064Z},
 tags = {02/11/15},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>        <m:bold>From Duplicate 2 ( </m:bold>        <m:bold>          </m:bold><m:bold><m:italic>Gene mapping in the 20th and 21st centuries: statistical methods, data analysis, and experimental design</m:italic></m:bold><m:bold>        </m:bold>        <m:bold> - Terwilliger, J D; Goring, H H )<m:linebreak/>        </m:bold>        <m:linebreak/>eng<m:linebreak/>Journal Article<m:linebreak/>Review<m:linebreak/>Review, Academic<m:linebreak/>        <m:linebreak/>      </m:note>},
 abstract = {In the 20th century geneticists began to unravel some of the simpler aspects of the etiology of inherited diseases in humans. The theory of linkage analysis was developed and applied long before the advent of molecular biology, but only the technological advances of the second half of the 20th century made large-scale gene mapping with a dense genome-spanning set of markers a reality. More recently, the primary topic of interest has shifted from simple Mendelian diseases, for which genotypes of some gene are the cause of disease, to more complex diseases, for which genotypes of some set of genes together with environmental factors merely alter the probability that an individual gets the disease, although individual factors are typically insufficient to cause the disease outright. To this end, a great deal of dogma has evolved about the best way to skin this cat, although to date success has been minimal with any approach. We postulate that the main reason for this is a lack of attention to experimental design. Once the data have been ascertained, the most powerful statistical methods will not be able to salvage an inappropriately designed study (Andersen 1990). Each phenotype and/or population mandates its own individually tailored study design to maximize the chances of successful gene mapping. We suggest that careful consideration of the available data from real genotype-phenotype correlation studies (as opposed to oversimplified theoretically tractable models), and the practical feasibility of different ascertainment schemes dictate how one should proceed. In this review we review the theory and practice of gene mapping at the close of the 20th century, showing that most methods of linkage and linkage disequilibrium analysis are similar in a fundamental sense, with the differences being related more to study design and ascertainment than to technical details of the underlying statistical analysis. To this end, we propose a new focus in the field of statistical genetics that more explicitly highlights the primacy of study design as the means to increase power for gene mapping.},
 bibtype = {article},
 author = {Terwilliger, Joseph D and Goring, Harald H H},
 journal = {Human Biology},
 number = {1}
}

Paper  abstract   bibtex   

@article{
 title = {Association mapping in structured populations},
 type = {article},
 year = {2000},
 identifiers = {[object Object]},
 keywords = {*Genetics, Population,Alleles,Case-Control Studies,Chromosome Mapping/*methods/statistics & numerical,Computer Simulation,Female,Genetic Diseases, Inborn/genetics,Genetic Markers/genetics,Human,Linkage Disequilibrium/genetics,Male,Models, Genetic,Nuclear Family,Pedigree,Phenotype,Polymorphism, Single Nucleotide/genetics,Reproducibility of Results,Sensitivity and Specificity,Statistical Distributions,Support, Non-U.S. Gov't,Support, U.S. Gov't, Non-P.H.S.},
 pages = {170-81.},
 volume = {67},
 id = {52b6a822-9e4a-36b5-8089-ea2febd3914d},
 created = {2017-06-19T13:46:04.983Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:46:05.122Z},
 tags = {02/12/06},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 abstract = {The use, in association studies, of the forthcoming dense genomewide collection of single-nucleotide polymorphisms (SNPs) has been heralded as a potential breakthrough in the study of the genetic basis of common complex disorders. A serious problem with association mapping is that population structure can lead to spurious associations between a candidate marker and a phenotype. One common solution has been to abandon case-control studies in favor of family-based tests of association, such as the transmission/disequilibrium test (TDT), but this comes at a considerable cost in the need to collect DNA from close relatives of affected individuals. In this article we describe a novel, statistically valid, method for case-control association studies in structured populations. Our method uses a set of unlinked genetic markers to infer details of population structure, and to estimate the ancestry of sampled individuals, before using this information to test for associations within subpopulations. It provides power comparable with the TDT in many settings and may substantially outperform it if there are conflicting associations in different subpopulations.},
 bibtype = {article},
 author = {Pritchard, J K and Stephens, M and Rosenberg, N A and Donnelly, P},
 journal = {Am J Hum Genet},
 number = {1}
}

@article{
 title = {Linkage disequilibrium analysis of biallelic DNA markers, human quantitative trait loci, and threshold-defined case and control subjects},
 type = {article},
 year = {2000},
 identifiers = {[object Object]},
 keywords = {*Alleles,*Quantitative Trait,Case-Control Studies,Chromosome Mapping/*methods/statistics & numerical,Computer Simulation,Gene Frequency/genetics,Genes, Dominant,Genes, Recessive,Genetic Markers/genetics,Haplotypes/genetics,Human,Linkage Disequilibrium/*genetics,Models, Genetic,Sample Size,Software,Support, U.S. Gov't, P.H.S.},
 pages = {1208-18.},
 volume = {67},
 id = {f12cf84e-6a1e-304d-80e6-7a9c46486cd8},
 created = {2017-06-19T13:44:43.573Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:44:43.706Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 abstract = {Linkage disequilibrium (LD) mapping has been applied to many simple, monogenic, overtly Mendelian human traits, with great success. However, extensions and applications of LD mapping approaches to more complex human quantitative traits have not been straightforward. In this article, we consider the analysis of biallelic DNA marker loci and human quantitative trait loci in settings that involve sampling individuals from opposite ends of the trait distribution. The purpose of this sampling strategy is to enrich samples for individuals likely to possess (and not possess) trait-influencing alleles. Simple statistical models for detecting LD between a trait-influencing allele and neighboring marker alleles are derived that make use of this sampling scheme. The power of the proposed method is investigated analytically for some hypothetical gene-effect scenarios. Our studies indicate that LD mapping of loci influencing human quantitative trait variation should be possible in certain settings. Finally, we consider possible extensions of the proposed methods, as well as areas for further consideration and improvement.},
 bibtype = {article},
 author = {Schork, N J and Nath, S K and Fallin, D and Chakravarti, A},
 journal = {Am J Hum Genet},
 number = {5}
}

Paper  Website  abstract   bibtex   

@article{
 title = {Estimation of variance components of quantitative traits in inbred populations},
 type = {article},
 year = {2000},
 identifiers = {[object Object]},
 keywords = {*Computer Simulation,*Consanguinity,*Models, Genetic,*Quantitative Trait,Algorithms,Alleles,Child,Christianity,Environment,Female,Genes, Dominant/genetics,Human,Likelihood Functions,Lipoproteins, HDL/genetics,Male,Matched-Pair Analysis,Multivariate Analysis,Pedigree,Sample Size,South Dakota,Support, Non-U.S. Gov't,Support, U.S. Gov't, P.H.S.},
 pages = {629-50.},
 volume = {66},
 websites = {http://www.journals.uchicago.edu/cgi-bin/resolve?AJHG991109ABS},
 id = {76094e54-68ff-3a6b-901b-54bb54c596e3},
 created = {2017-06-19T13:43:48.491Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:43:48.620Z},
 tags = {02/02/07},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 abstract = {Use of variance-component estimation for mapping of quantitative-trait loci in humans is a subject of great current interest. When only trait values, not genotypic information, are considered, variance-component estimation can also be used to estimate heritability of a quantitative trait. Inbred pedigrees present special challenges for variance-component estimation. First, there are more variance components to be estimated in the inbred case, even for a relatively simple model including additive, dominance, and environmental effects. Second, more identity coefficients need to be calculated from an inbred pedigree in order to perform the estimation, and these are computationally more difficult to obtain in the inbred than in the outbred case. As a result, inbreeding effects have generally been ignored in practice. We describe here the calculation of identity coefficients and estimation of variance components of quantitative traits in large inbred pedigrees, using the example of HDL in the Hutterites. We use a multivariate normal model for the genetic effects, extending the central-limit theorem of Lange to allow for both inbreeding and dominance under the assumptions of our variance-component model. We use simulated examples to give an indication of under what conditions one has the power to detect the additional variance components and to examine their impact on variance-component estimation. We discuss the implications for mapping and heritability estimation by use of variance components in inbred populations.},
 bibtype = {article},
 author = {Abney, M and McPeek, M S and Ober, C},
 journal = {Am J Hum Genet},
 number = {2}
}

Paper  abstract   bibtex   

@article{
 title = {The distribution of human genetic diversity: a comparison of mitochondrial, autosomal, and Y-chromosome data},
 type = {article},
 year = {2000},
 identifiers = {[object Object]},
 keywords = {Africa,Alleles,Alu Elements/genetics,Asia,Bias (Epidemiology),Chromosomes, Human/*genetics,Comparative Study,DNA Restriction Enzymes/metabolism,DNA, Mitochondrial/*genetics,Europe,Female,Gene Frequency/genetics,Human,Long Interspersed Nucleotide Elements/genetics,Male,Mutation/genetics,Phylogeny,Polymorphism (Genetics)/genetics,Support, U.S. Gov't, Non-P.H.S.,Support, U.S. Gov't, P.H.S.,Tandem Repeat Sequences/genetics,Variation (Genetics)/*genetics,Y Chromosome/*genetics},
 pages = {979-988},
 volume = {66},
 id = {de837c67-d8dc-3fe3-b1d6-21d7236de12f},
 created = {2017-06-19T13:43:25.760Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:43:25.903Z},
 tags = {03/05/16},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>Journal Article</m:note>},
 abstract = {We report a comparison of worldwide genetic variation among 255 individuals by using autosomal, mitochondrial, and Y-chromosome polymorphisms. Variation is assessed by use of 30 autosomal restriction-site polymorphisms (RSPs), 60 autosomal short-tandem-repeat polymorphisms (STRPs), 13 Alu-insertion polymorphisms and one LINE-1 element, 611 bp of mitochondrial control-region sequence, and 10 Y-chromosome polymorphisms. Analysis of these data reveals substantial congruity among this diverse array of genetic systems. With the exception of the autosomal RSPs, in which an ascertainment bias exists, all systems show greater gene diversity in Africans than in either Europeans or Asians. Africans also have the largest total number of alleles, as well as the largest number of unique alleles, for most systems. GST values are 11%-18% for the autosomal systems and are two to three times higher for the mtDNA sequence and Y-chromosome RSPs. This difference is expected because of the lower effective population size of mtDNA and Y chromosomes. A lower value is seen for Y-chromosome STRs, reflecting a relative lack of continental population structure, as a result of rapid mutation and genetic drift. Africa has higher GST values than does either Europe or Asia for all systems except the Y-chromosome STRs and Alus. All systems except the Y-chromosome STRs show less variation between populations within continents than between continents. These results are reassuring in their consistency and offer broad support for an African origin of modern human populations.},
 bibtype = {article},
 author = {Jorde, L B and Watkins, W S and Bamshad, M J and Dixon, M E and Ricker, C E and Seielstad, M T and Batzer, M A},
 journal = {Am J Hum Genet},
 number = {3}
}

Paper  abstract   bibtex   

@article{
 title = {Cancer incidences in Europe related to mortalities, and ethnohistoric, genetic, and geographic distances},
 type = {article},
 year = {2000},
 identifiers = {[object Object]},
 keywords = {Cluster Analysis,Comparative Study,Data Collection,Databases, Factual,Ethnic Groups/statistics & numerical data,Europe/epidemiology,Female,Genetic Predisposition to Disease,Human,Incidence,International Agencies,Male,Neoplasms/*epidemiology/ethnology/genetics/mortali,Neoplastic Syndromes, Hereditary/epidemiology/gene,Support, U.S. Gov't, Non-P.H.S.},
 pages = {6067-72.},
 volume = {97},
 id = {7fe95906-3a76-3f77-95c4-5e63112067bd},
 created = {2017-06-19T13:42:22.483Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:42:22.750Z},
 tags = {02/12/09},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 abstract = {We have previously shown that geographic differences in cancer mortalities in Europe are related to (in order of importance): geographic distances (reflecting environmental differences), ethnohistoric distances (encompassing cultural and genetic attributes), and genetic distances of the populations in the areas studied. In this study, we analyzed the relations of the same three factors to European incidences of 45 male and 47 female cancers. Differences in cancer incidences are correlated moderately, first with geographic distances, and then with genetic distances, but not at all with ethnohistoric distances. Comparing these findings to the earlier ones for cancer mortalities, we note the reversal in the importance of ethnohistory and genetics, and the generally lower correlations of incidence differences with the three putatively causal distance matrices. A path diagram combining both studies demonstrates the lack of cultural carcinogenic effects, but suggests cultural influences on procedures such as the registration of deaths in different political entities. Additionally, the relatively large correlation between ethnohistoric distances and mortality differences is caused by common factors behind the correlation of ethnohistoric and geographic distances. Geographic proximity results in similar ethnohistories. The direct effects of genetic distances are negligible and only their common effects with geographic distances play a role, accounting for the weak to negligible influence of genetics on incidence and mortality differences. Apparently, the genetic systems available to us do not substantially affect cancer incidence or mortality. We present indirect evidence that international differences in the quality of cancer rate data are greater in mortalities than in incidences.},
 bibtype = {article},
 author = {Sokal, R R and Oden, N L and Rosenberg, M S and Thomson, B A},
 journal = {Proc Natl Acad Sci U S A},
 number = {11}
}

@article{ Chance_Abbott00,
  author = {F. S. Chance and L. F. Abbott},
  title = {Divisive inhibition in recurrent networks},
  journal = {Network},
  year = {2000},
  volume = {11},
  pages = {119-129},
  number = {2},
  month = {May},
  abstract = {Models of visual cortex suggest that response selectivity can arise
	from recurrent networks operating at high gain. However, such networks
	have a number of problematic features: (i) they operate perilously
	close to a point of instability, (ii) small changes in synaptic strength
	can dramatically modify the degree of amplification, and (iii) they
	respond slowly to rapidly changing stimuli. Divisive inhibition,
	acting through interneurons that are themselves divisively inhibited,
	can solve these problems without degrading the selectivity of a recurrent
	network.},
  address = {Volen Center for Complex Systems and Department of Biology, Brandeis
	University, Waltham, MA 02454-9110, USA.},
  ennumber = {also in ~/papers/border-ownership/ed/model-paper/lit},
  keywords = {Animals | Computer Simulation | Human | *Models, Neurological | Nerve
	Net/*physiology | Neural Inhibition/*physiology | Support, Non-U.S.
	Gov't | Support, U.S. Gov't, Non-P.H.S. | 2000/10/14 11:01}
}

Paper  abstract   bibtex   

@article{
 title = {Inbreeding effects on fertility in humans: evidence for reproductive compensation},
 type = {article},
 year = {1999},
 identifiers = {[object Object]},
 keywords = {*Consanguinity,Adult,Female,Fertility/*genetics,Human,Male,Maternal Age,Parity,Pregnancy,Pregnancy Outcome,Support, U.S. Gov't, P.H.S.,Survival Analysis},
 pages = {225-231},
 volume = {64},
 id = {711dce5e-f621-38d7-b578-243db54df1d0},
 created = {2017-06-19T13:45:55.794Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:45:55.913Z},
 tags = {04/11/22},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>Journal Article</m:note>},
 abstract = {The effects of inbreeding on prereproductive mortality have been demonstrated in many natural populations, including humans. However, little is known about the effects in inbred individuals who survive to adulthood. We have investigated the effects of inbreeding on fertility among inbred adult Hutterites and demonstrate significantly reduced fecundity among the most inbred Hutterite women, as evidenced by longer interbirth intervals (P=.024) and longer intervals to a recognized pregnancy (P=.010) but not by increased rates of fetal loss (P>.50). These data suggest the presence of recessive alleles that adversely affect fecundity among the population. In contrast, completed family sizes do not differ among the more and the less-inbred Hutterite women who were born after 1920, suggesting that reproductive compensation is occurring among the more-inbred and less-fecund women. This recent reproductive strategy would facilitate the maintenance of recessive alleles and contribute to an overall decline in fertility in the population.},
 bibtype = {article},
 author = {Ober, C and Hyslop, T and Hauck, W W},
 journal = {Am J Hum Genet},
 number = {1}
}

Paper  abstract   bibtex   

@article{
 title = {From complex traits to complex alleles},
 type = {article},
 year = {1999},
 identifiers = {[object Object]},
 keywords = {*Alleles,*Chromosome Mapping,*Genes,*Genetic Heterogeneity,*Quantitative Trait,Animal,Drosophila melanogaster/*genetics/physiology,Evolution,Female,Genetic Diseases,Human,Inborn/genetics,Infertility,Insect,Male,Male/genetics,Membrane Proteins/genetics/physiology,Non-P.H.S.,P.H.S.,Phenotype,Polymorphism (Genetics),Support,U.S. Gov't},
 pages = {6-8},
 volume = {15},
 id = {b6a2aaaa-b35d-3d77-ba5c-0930dbe055a9},
 created = {2017-06-19T13:41:59.662Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:41:59.802Z},
 tags = {02/11/15},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>        <m:bold>From Duplicate 2 ( </m:bold>                <m:bold>          </m:bold><m:bold><m:italic>From complex traits to complex alleles</m:italic></m:bold><m:bold>        </m:bold>                <m:bold> - Phillips, P C )<m:linebreak/>        </m:bold>        <m:linebreak/>eng<m:linebreak/>Journal Article<m:linebreak/>Review<m:linebreak/>Review, Tutorial<m:linebreak/>        <m:linebreak/>      </m:note>},
 abstract = {Several recent studies using natural populations of Drosophila show that one must be very careful when sorting among the large number of molecular polymorphisms found at most loci to identify the nucleotide changes responsible for phenotypic variation in complex traits. Indeed, several mutations within a single allele can interact to generate the overall observed effect. The results are instructive both for those interested in the genetics of evolutionary change and for those attempting to ferret out the genetic basis of complex human diseases.},
 bibtype = {article},
 author = {Phillips, Patric C and Patrick C. Phillips, undefined},
 journal = {Trends in genetics},
 number = {1}
}

Paper  abstract   bibtex   

@article{
 title = {Use of unlinked genetic markers to detect population stratification in association studies},
 type = {article},
 year = {1999},
 identifiers = {[object Object]},
 keywords = {*Case-Control Studies,*Genetic Markers,*Linkage (Genetics),*Models, Genetic,Alleles,Genotype,Human,Research Design,Support, Non-U.S. Gov't,Support, U.S. Gov't, P.H.S.},
 pages = {220-8.},
 volume = {65},
 id = {b79d206a-a398-3b9a-8ad4-7f1e22c70cda},
 created = {2017-06-19T13:45:20.473Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:45:20.613Z},
 tags = {02/11/15},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 abstract = {We examine the issue of population stratification in association-mapping studies. In case-control studies of association, population subdivision or recent admixture of populations can lead to spurious associations between a phenotype and unlinked candidate loci. Using a model of sampling from a structured population, we show that if population stratification exists, it can be detected by use of unlinked marker loci. We show that the case-control-study design, using unrelated control individuals, is a valid approach for association mapping, provided that marker loci unlinked to the candidate locus are included in the study, to test for stratification. We suggest guidelines as to the number of unlinked marker loci to use.},
 bibtype = {article},
 author = {Pritchard, J K and Rosenberg, N A},
 journal = {Am J Hum Genet},
 number = {1}
}

Website  abstract   bibtex   

@article{
 title = {Genetic factors in susceptibility to death: a comparative analysis of bivariate survival models},
 type = {article},
 year = {1999},
 identifiers = {[object Object]},
 keywords = {*Death,*Genetic Predisposition to Disease,*Models, Genetic,Cohort Studies,Denmark/epidemiology,Female,Humans,Male,Research Support, U.S. Gov't, P.H.S.,Statistics,Twins, Dizygotic/statistics & numerical data,Twins, Monozygotic/statistics & numerical data,Variation (Genetics)},
 pages = {53-60},
 volume = {4},
 websites = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10613717},
 id = {949c19fe-b444-3008-8971-61b8e23d08fc},
 created = {2017-06-19T13:42:11.608Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:42:11.725Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>1359-5229<m:linebreak/>Journal Article<m:linebreak/>Twin Study</m:note>},
 abstract = {BACKGROUND: Molecular epidemiological studies of aging and longevity are focused on evaluating the effects of single genes on susceptibility to disease and death. The effects of all genetic factors on susceptibility can be evaluated from the analysis of survival data on related individuals. METHOD: The analyses of survival data on Danish monozygotic (MZ) and dizygotic (DZ) twins are performed using gamma, inverse Gaussian and three-parameter correlated frailty models. The semiparametric representations of the respective models are used to obtain maximum likelihood estimates of model parameters. The results are compared using the likelihood ratio test. RESULTS: The survival of Danish MZ and DZ twins can be characterised by the same marginal hazards and identical univariate frailty distributions for any of the three frailty models. In all three cases the genetic influence on frailty is statistically significant. CONCLUSION: All three models can be used to study genetic effects on susceptibility. The gamma and inverse Gaussian frailty models fit the Danish twin data equally well. Our analyses show that for the Danish twin data these two models are preferable to the three-parameter model.},
 bibtype = {article},
 author = {Yashin, A I and Begun, A Z and Iachine, I A},
 journal = {J Epidemiol Biostat},
 number = {1}
}

Website  abstract   bibtex   

@article{
 title = {Dynamic paradigms for human mortality and aging},
 type = {article},
 year = {1999},
 identifiers = {[object Object]},
 keywords = {*Aging/immunology/physiology,*Longevity,*Models, Biological,*Models, Statistical,Aged,Aged, 80 and over,Cytochrome P-450 Enzyme System/metabolism,Heat-Shock Proteins/metabolism,Humans,Life Expectancy,Middle Aged,Mortality,Nonlinear Dynamics,Research Support, U.S. Gov't, P.H.S.,Stochastic Processes},
 pages = {B247-54},
 volume = {54},
 websites = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10411010},
 id = {c24194cd-c364-356a-8720-ab36c5382190},
 created = {2017-06-19T13:42:37.332Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:42:37.496Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>1079-5006<m:linebreak/>Journal Article</m:note>},
 abstract = {Hazard models are often applied to mortality data of humans and other species so that the parameter estimates made for those models can be used to make inferences about the biology, and comparative biology, of aging processes. Enough longitudinal data on physiological and functional changes in humans now exist to know that the age trajectory of the physiological state of individuals is multidimensional, stochastic, and plastic. Thus, to fully assess the biological significance of existing longitudinal data on human aging and mortality processes, multivariate stochastic process models must be developed that are biologically detailed and valid. This requires assessing genetic mechanisms controlling human longevity and rates of aging, developing models of how those traits may have evolved, and developing statistical methods for identifying gene environment interactions. This article examines the theoretical basis for such models and the biological rationale of their parametric structure. Several examples are given.},
 bibtype = {article},
 author = {Manton, K G},
 journal = {J Gerontol A Biol Sci Med Sci},
 number = {6}
}

@Article{Marcus-Science,
  author   = {Marcus, Gary F and Vijayan, S and Rao, S Bandi and Vishton, PM},
  journal  = {Science},
  title    = {Rule learning by seven-month-old infants.},
  year     = {1999},
  number   = {5398},
  pages    = {77-80},
  volume   = {283},
  abstract = {A fundamental task of language acquisition is to extract abstract
	algebraic rules. Three experiments show that 7-month-old infants
	attend longer to sentences with unfamiliar structures than to sentences
	with familiar structures. The design of the artificial language task
	used in these experiments ensured that this discrimination could
	not be performed by counting, by a system that is sensitive only
	to transitional probabilities, or by a popular class of simple neural
	network models. Instead, these results suggest that infants can represent,
	extract, and generalize abstract algebraic rules.},
  keywords = {Computing Methodologies, Human, Language, Learning, Mental Processes, Models, Theoretical, Stochastic Processes, Support, U.S. Gov't, Non-P.H.S., Cognition, Linguistics, Neural Networks (Computer), Practice (Psychology), Non-U.S. Gov't, Memory, Psychological, Task Performance and Analysis, Time Factors, Visual Perception, Adult, Attention, Discrimination Learning, Female, Male, Short-Term, Mental Recall, Orientation, Pattern Recognition, Visual, Perceptual Masking, Reading, Concept Formation, Form Perception, Animals, Corpus Striatum, Shrews, P.H.S., Visual Cortex, Visual Pathways, Acoustic Stimulation, Auditory Cortex, Auditory Perception, Cochlea, Ear, Gerbillinae, Glycine, Hearing, Neurons, Space Perception, Strychnine, Adolescent, Decision Making, Reaction Time, Astrocytoma, Brain Mapping, Brain Neoplasms, Cerebral Cortex, Electric Stimulation, Electrophysiology, Epilepsy, Temporal Lobe, Evoked Potentials, Frontal Lobe, Noise, Parietal Lobe, Scalp, Child, Language Development, Psycholinguistics, Brain, Perception, Speech, Vocalization, Animal, Discrimination (Psychology), Hippocampus, Rats, Calcium, Chelating Agents, Excitatory Postsynaptic Potentials, Glutamic Acid, Guanosine Diphosphate, In Vitro, Neuronal Plasticity, Pyramidal Cells, Receptors, AMPA, Metabotropic Glutamate, N-Methyl-D-Aspartate, Somatosensory Cortex, Synapses, Synaptic Transmission, Thionucleotides, Action Potentials, Calcium Channels, L-Type, Electric Conductivity, Entorhinal Cortex, Neurological, Long-Evans, Infant, Mathematics, Statistics, Probability Learning, Problem Solving, Psychophysics, Association Learning, Child Psychology, Habituation (Psychophysiology), Probability Theory, Analysis of Variance, Semantics, Symbolism, Behavior, Eye Movements, Macaca mulatta, Prefrontal Cortex, Cats, Dogs, Haplorhini, Photic Stimulation, Electroencephalography, Nervous System Physiology, Darkness, Grasshoppers, Light, Membrane Potentials, Neural Inhibition, Afferent, Picrotoxin, Vision, Deoxyglucose, Injections, Microspheres, Neural Pathways, Rhodamines, Choice Behavior, Speech Perception, Verbal Learning, Dominance, Cerebral, Fixation, Ocular, Language Tests, Random Allocation, Comparative Study, Saguinus, Sound Spectrography, Species Specificity, Audiometry, Auditory Threshold, Calibration, Data Interpretation, Statistical, Anesthesia, General, Electrodes, Implanted, Pitch Perception, Sound Localization, Paired-Associate Learning, Serial Learning, Auditory, Age Factors, Motion Perception, Brain Injuries, Computer Simulation, Blindness, Psychomotor Performance, Color Perception, Signal Detection (Psychology), Judgment, ROC Curve, Regression Analysis, Music, Probability, Arm, Cerebrovascular Disorders, Hemiplegia, Movement, Muscle, Skeletal, Myoclonus, Robotics, Magnetoencephalography, Phonetics, Software, Speech Production Measurement, Epilepsies, Partial, Laterality, Stereotaxic Techniques, Germany, Speech Acoustics, Verbal Behavior, Child Development, Instinct, 10523181},
}

Website  abstract   bibtex   

@article{
 title = {How heritable is individual susceptibility to death? The results of an analysis of survival data on Danish, Swedish and Finnish twins},
 type = {article},
 year = {1998},
 identifiers = {[object Object]},
 keywords = {*Death,*Genetic Predisposition to Disease,Adult,Age Factors,Aged,Aged, 80 and over,Denmark,Disease Susceptibility,Environment,Epidemiology, Molecular,Female,Finland,Forecasting,Health,Humans,Life Tables,Likelihood Functions,Longevity/genetics,Male,Middle Aged,Models, Genetic,Research Support, Non-U.S. Gov't,Research Support, U.S. Gov't, P.H.S.,Sex Factors,Survival Analysis,Sweden,Twins/*genetics},
 pages = {196-205},
 volume = {1},
 websites = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=10100811},
 id = {161c25f0-f407-3983-ac34-656acbfb7169},
 created = {2017-06-19T13:42:57.913Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:42:58.237Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>1369-0523<m:linebreak/>Journal Article<m:linebreak/>Twin Study</m:note>},
 abstract = {Molecular epidemiological studies confirm a substantial contribution of individual genes to variability in susceptibility to disease and death for humans. To evaluate the contribution of all genes to susceptibility and to estimate individual survival characteristics, survival data on related individuals (eg twins or other relatives) are needed. Correlated gamma-frailty models of bivariate survival are used in a joint analysis of survival data on more than 31,000 pairs of Danish, Swedish and Finnish male and female twins using the maximum likelihood method. Additive decomposition of frailty into genetic and environmental components is used to estimate heritability in frailty. The estimate of the standard deviation of frailty from the pooled data is about 1.5. The hypothesis that variance in frailty and correlations of frailty for twins are similar in the data from all three countries is accepted. The estimate of narrow-sense heritability in frailty is about 0.5. The age trajectories of individual hazards are evaluated for all three populations of twins and both sexes. The results of our analysis confirm the presence of genetic influences on individual frailty and longevity. They also suggest that the mechanism of these genetic influences may be similar for the three Scandinavian countries. Furthermore, results indicate that the increase in individual hazard with age is more rapid than predicted by traditional demographic life tables.},
 bibtype = {article},
 author = {Iachine, I A and Holm, N V and Harris, J R and Begun, A Z and Iachina, M K and Laitinen, M and Kaprio, J and Yashin, A I},
 journal = {Twin Res},
 number = {4}
}

@article{
 title = {Factors affecting population variation in eastern Adriatic isolates (Croatia)},
 type = {article},
 year = {1998},
 identifiers = {[object Object]},
 keywords = {*Genetics, Population,*Population Dynamics,Anthropometry,Croatia,Family Characteristics,Female,Human,Linguistics,Male,Phenotype,Support, Non-U.S. Gov't,Support, U.S. Gov't, Non-P.H.S.},
 pages = {845-64.},
 volume = {70},
 id = {cdbc4ebb-df76-32b2-a776-cb79c25f47cc},
 created = {2017-06-19T13:45:43.938Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:45:44.064Z},
 tags = {02/02/13},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 abstract = {Inhabitants of the Croatian islands of Brac, Hvar, Korcula, and the Peljesac Peninsula have been the subject of extensive previous studies of local population differentiation. Most of these studies used biological and ecological variables, but some also considered historical and sociological factors. In this study we use genetic, morphological, kinship, and language distance data, collected for individuals from 26 rural communities on the islands of Brac, Hvar, Korcula, and the Peljesac Peninsula in the Adriatic, to further explore the interaction of historical, sociological, and biological factors in small populations and to test the significance of some of these proposed causes. First, we use matrix correlation methods to evaluate the relationships among different types of distance measures. The specific measures of genetic distance used here do not correlate well with other measures of population distance, and it appears that for the studied genetic systems the populations are not strongly differentiated. As expected, kinship and language distances have a high degree of association. Morphological differences among populations seem to be more closely tied to kinship distances than to genetic distances. This may result from modification of some morphological features by environmental rather than genetic factors, or it may be attributed to extensive, selective, nonrandom emigration of the population during the first decade of the twentieth century. In the second part of our analysis we use matrix correlation methods to evaluate and possibly identify the external factors that have contributed to the population differences. Specifically, we use design matrices to test hypotheses that population differences can be explained by one of the following factors: geographic isolation on the islands and peninsula, distance from the mainland, geographic barriers within the islands and peninsula, and the historical factors that differentially affected the three islands and the peninsula. Most of these design matrices reflect geographic distances; although correlations between morphological variables and simple geographic distance between localities were not significant, correlations between these localities and a design matrix incorporating geographic distance along with geographic barriers, such as bodies of water and mountain ranges, are particularly important for explaining distances among kin. Design matrices provide an important tool for quantifying the relationship between historical and geographic factors, and measures of population distance.},
 bibtype = {article},
 author = {Waddle, D M and Sokal, R R and Rudan, P},
 journal = {Hum Biol},
 number = {5}
}

Website  abstract   bibtex   

@article{
 title = {Mitochondrial aging: open questions},
 type = {article},
 year = {1998},
 identifiers = {[object Object]},
 keywords = {Aging/*physiology,Animals,Antioxidants/metabolism,DNA, Mitochondrial/genetics,Humans,Life Expectancy,Longevity,Mammals,Mitochondria/*metabolism,Mutation,Oxidants/metabolism,Oxidative Phosphorylation,Research Support, U.S. Gov't, P.H.S.},
 pages = {118-127},
 volume = {854},
 websites = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9928425},
 id = {ee9849b4-dbd9-3294-a5fe-31fd5a3bf139},
 created = {2017-06-19T13:43:14.144Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:43:14.247Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>0077-8923<m:linebreak/>Journal Article<m:linebreak/>Review<m:linebreak/>Review, Tutorial</m:note>},
 abstract = {Interest in the role of mitochondria in aging has intensified in recent years. This focus on mitochondria originated in part from the free radical theory of aging, which argues that oxidative damage plays a key role in degenerative senescence. Among the numerous mechanisms known to generate oxidants, leakage of the superoxide anion and hydrogen peroxide from the mitochondrial electron transport chain are of particular interest, due to the correlation between species-specific metabolic rate ("rate of living") and life span. Phenomenological studies of mitochondrial function long ago noted a decline in mitochondrial function with age, and on-going research continues to add to this body of knowledge. The extranuclear somatic mutation theory of aging proposes that the accumulation of mutations in the mitochondrial genome may be responsible in part for the mitochondrial phenomenology of aging. Recent studies of mitochondrial DNA (mtDNA) deletions have shown that they increase with age in humans and other mammals. Currently, there exist numerous important and fundamental questions surrounding mitochondria and aging. Among these are (1) How important are mitochondrial oxidants in determining overall cellular oxidative stress? (2) What are the mechanisms of mitochondrial oxidant generation? (3) How are lesions and mutations in mtDNA formed? (4) How important are mtDNA lesions and mutations in causing mitochondrial dysfunction? (5) How are mitochondria regulated, and how does this regulation change during aging? (6) What are the dynamics of mitochondrial turnover? (7) What is the relationship between mitochondrial damage and lipofuscinogenesis? (8) What are the relationships among mitochondria, apopotosis, and aging? and (9) How can mitochondrial function (ATP generation and the establishment of a membrane potential) and dysfunction (oxidant generation) be modulated and degenerative senescence thereby treated?},
 bibtype = {article},
 author = {Beckman, K B and Ames, B N},
 journal = {Ann N Y Acad Sci}
}

Website  abstract   bibtex   

@article{
 title = {A genome scan for loci influencing total serum immunoglobulin levels: possible linkage of IgA to the chromosome 13 atopy locus},
 type = {article},
 year = {1998},
 identifiers = {[object Object]},
 keywords = {*Chromosomes, Human, Pair 13,*Genes, Immunoglobulin,*Genome, Human,Humans,Immunoglobulin A/*genetics,Linkage (Genetics),Research Support, Non-U.S. Gov't,Research Support, U.S. Gov't, P.H.S.},
 pages = {27-31},
 volume = {7},
 websites = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9384600},
 id = {fe2dc2d6-026a-3c4d-aa94-29cac1b3c848},
 created = {2017-06-19T13:43:58.454Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:43:58.563Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>0964-6906<m:linebreak/>Journal Article</m:note>},
 abstract = {Immunoglobulins play an essential part in the immune system, and immunoglobulin deficiencies can have profound medical consequences. The genetic control and regulation of the immunoglobulin response is therefore of interest. Previous investigations have identified a number of loci influencing total and specific IgE levels. In this study, 80 nuclear families have been examined for linkage of total serum IgA, IgG and IgM levels to a genome-wide panel of microsatellite markers. Potential quantitative trait loci influencing IgA levels have been identified on chromosomes 10 and 13, and possible loci influencing IgG levels were found on chromosomes 3 and 13. No significant linkages to IgM levels were found. The linkage of IgA on chromosome 13 was to a marker previously linked to IgE responses (atopy). Linkage to IgG was in the same region but to a more distal marker. None of the factors known to influence immunoglobulin expression map to the loci identified in the present study. These loci are therefore likely to contain previously unrecognized components of the immunoregulatory system.},
 bibtype = {article},
 author = {Wiltshire, S and Bhattacharyya, S and Faux, J A and Leaves, N I and Daniels, S E and Moffatt, M F and James, A and Musk, A W and Cookson, W O},
 journal = {Hum Mol Genet},
 number = {1}
}

@Article{Mesulam1998,
  author   = {MM Mesulam},
  journal  = {Brain},
  title    = {From sensation to cognition.},
  year     = {1998},
  pages    = {1013-52},
  volume   = {121 ( Pt 6)},
  abstract = {Sensory information undergoes extensive associative elaboration and
	attentional modulation as it becomes incorporated into the texture
	of cognition. This process occurs along a core synaptic hierarchy
	which includes the primary sensory, upstream unimodal, downstream
	unimodal, heteromodal, paralimbic and limbic zones of the cerebral
	cortex. Connections from one zone to another are reciprocal and allow
	higher synaptic levels to exert a feedback (top-down) influence upon
	earlier levels of processing. Each cortical area provides a nexus
	for the convergence of afferents and divergence of efferents. The
	resultant synaptic organization supports parallel as well as serial
	processing, and allows each sensory event to initiate multiple cognitive
	and behavioural outcomes. Upstream sectors of unimodal association
	areas encode basic features of sensation such as colour, motion,
	form and pitch. More complex contents of sensory experience such
	as objects, faces, word-forms, spatial locations and sound sequences
	become encoded within downstream sectors of unimodal areas by groups
	of coarsely tuned neurons. The highest synaptic levels of sensory-fugal
	processing are occupied by heteromodal, paralimbic and limbic cortices,
	collectively known as transmodal areas. The unique role of these
	areas is to bind multiple unimodal and other transmodal areas into
	distributed but integrated multimodal representations. Transmodal
	areas in the midtemporal cortex, Wernicke's area, the hippocampal-entorhinal
	complex and the posterior parietal cortex provide critical gateways
	for transforming perception into recognition, word-forms into meaning,
	scenes and events into experiences, and spatial locations into targets
	for exploration. All cognitive processes arise from analogous associative
	transformations of similar sets of sensory inputs. The differences
	in the resultant cognitive operation are determined by the anatomical
	and physiological properties of the transmodal node that acts as
	the critical gateway for the dominant transformation. Interconnected
	sets of transmodal nodes provide anatomical and computational epicentres
	for large-scale neurocognitive networks. In keeping with the principles
	of selectively distributed processing, each epicentre of a large-scale
	network displays a relative specialization for a specific behavioural
	component of its principal neurospychological domain. The destruction
	of transmodal epicentres causes global impairments such as multimodal
	anomia, neglect and amnesia, whereas their selective disconnection
	from relevant unimodal areas elicits modality-specific impairments
	such as prosopagnosia, pure word blindness and category-specific
	anomias. The human brain contains at least five anatomically distinct
	networks. The network for spatial awareness is based on transmodal
	epicentres in the posterior parietal cortex and the frontal eye fields;
	the language network on epicentres in Wernicke's and Broca's areas;
	the explicit memory/emotion network on epicentres in the hippocampal-entorhinal
	complex and the amygdala; the face-object recognition network on
	epicentres in the midtemporal and temporopolar cortices; and the
	working memory-executive function network on epicentres in the lateral
	prefrontal cortex and perhaps the posterior parietal cortex. Individual
	sensory modalities give rise to streams of processing directed to
	transmodal nodes belonging to each of these networks. The fidelity
	of sensory channels is actively protected through approximately four
	synaptic levels of sensory-fugal processing. The modality-specific
	cortices at these four synaptic levels encode the most veridical
	representations of experience. Attentional, motivational and emotional
	modulations, including those related to working memory, novelty-seeking
	and mental imagery, become increasingly more pronounced within downstream
	components of unimodal areas, where they help to create a highly
	edited subjective version of the world. (ABSTRACT TRUNCATED)},
  keywords = {Attention, Behavior, Cerebral Cortex, Cognition, Human, Language, Memory, Perception, Sensation, Support, U.S. Gov't, P.H.S., 9648540},
}

Paper  abstract   bibtex   

@article{
 title = {Genetic evidence for a higher female migration rate in humans},
 type = {article},
 year = {1998},
 identifiers = {[object Object]},
 keywords = {*Emigration and Immigration,*Genetics, Population,Comparative Study,DNA, Mitochondrial/genetics,Female,Human,Male,Microsatellite Repeats,Polymorphism (Genetics),Sex Characteristics,Support, Non-U.S. Gov't,Support, U.S. Gov't, Non-P.H.S.,Support, U.S. Gov't, P.H.S.,Variation (Genetics),Y Chromosome/genetics},
 pages = {278-80.},
 volume = {20},
 id = {bec7eddc-eccb-3b85-b4a5-909b2398a661},
 created = {2017-06-19T13:42:34.515Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:42:34.645Z},
 tags = {01/12/13},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 abstract = {Mitochondrial DNA and the Y chromosome have been used extensively in the study of modern human origins and other phylogenetic questions, but not in the context of their sex-specific modes of transmission. mtDNA is transmitted exclusively by females, whereas the Y chromosome is passed only among males. As a result, differences in the reproductive output or migration rate of males and females will influence the geographic patterns and relative level of genetic diversity on the Y chromosome, autosomes and mtDNA (ref. 1). We have found that Y chromosome variants tend to be more localized geographically than those of mtDNA and the autosomes. The fraction of variation within human populations for Y chromosome single nucleotide polymorphisms (SNPs) is 35.5%, versus 80-85% for the autosomes and mtDNA (refs 6-8). A higher female than male migration rate (via patrilocality, the tendency for a wife to move into her husband's natal household) explains most of this discrepancy, because diverse Y chromosomes would enter a population at a lower rate than mtDNA or the autosomes. Polygyny may also contribute, but the reduction of variation within populations that we measure for the Y chromosome, relative to the autosomes and mitochondrial DNA, is of such magnitude that differences in the effective population sizes of the sexes alone are insufficient to produce the observation.},
 bibtype = {article},
 author = {Seielstad, M T and Minch, E and Cavalli-Sforza, L L},
 journal = {Nat Genet},
 number = {3}
}

@article{luck_neural_1997,
	title = {Neural mechanisms of spatial selective attention in areas {V1}, {V2}, and {V4} of macaque visual cortex.},
	volume = {77},
	abstract = {Many neurons in extrastriate visual cortex have large receptive fields, and this may lead to significant computational problems whenever multiple stimuli fall within a single field. Previous studies have suggested that when multiple stimuli fall within a cell's receptive field, they compete for the cell's response in a manner that can be biased in favor of attended stimuli. In the present study we examined this role of attention in areas V1, V2, and V4 of macaque monkeys with the use of a behavioral paradigm in which attention was directed to one of two stimulus locations. When two stimuli were presented simultaneously inside the cell's receptive field (which could be accomplished only in areas V2 and V4), we found that the cell's response was strongly influenced by which of the two stimuli was attended. The size of this attention effect was reduced when the attended and ignored stimuli were presented sequentially rather than simultaneously. In addition, the effects became very weak and inconsistent in these areas when only one of the two stimuli was located inside the receptive field. Attention thus modulated sensory responses primarily when two or more simultaneous stimuli competed for access to a neuron's receptive field. As in areas V2 and V4, attention did not modulate sensory responses in area V1 when only a single stimulus was inside the receptive field. In addition, the small receptive fields in this area precluded the simultaneous presentation of attended and ignored stimuli inside the receptive field, making it impossible to determine whether attention effects would be observed under the conditions that led to consistent attention effects in areas V2 and V4. Spontaneous firing rates in areas V2 and V4 were found to be 30-40\% higher when attention was directed inside rather than outside the receptive field, even when no stimulus was present in the receptive field. Spontaneous firing rates also varied according to the particular location within the receptive field that was attended. These shifts in spontaneous activity may reflect a top-down signal that biases responses in favor of stimuli at the attended location.},
	language = {eng},
	number = {1},
	journal = {J Neurophysiol},
	author = {Luck, S J and Chelazzi, L and Hillyard, S A and Desimone, R},
	year = {1997},
	pmid = {9120566},
	note = {Place: UNITED STATES
ISBN: 0022-3077},
	keywords = {Animals, Attention, Cues, Electrodes, Implanted, Evoked Potentials, Visual, Eye Movements, Macaca mulatta, Male, Neurons, Photic Stimulation, Psychomotor Performance, Space Perception, Visual Cortex, research support, non-u.s. gov't, research support, u.s. gov't, non-p.h.s., research support, u.s. gov't, p.h.s.},
	pages = {24--42},
}

Website  abstract   bibtex   

@article{
 title = {Genetics of aging},
 type = {article},
 year = {1997},
 identifiers = {[object Object]},
 keywords = {Aging/*genetics,Alzheimer Disease/genetics,Animals,Apoptosis/genetics,Gene Expression,Humans,Longevity/*genetics,Mutation,Research Support, Non-U.S. Gov't,Research Support, U.S. Gov't, P.H.S.,Risk Factors,Variation (Genetics)},
 pages = {407-411},
 volume = {278},
 websites = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9334291},
 id = {7125e0bf-17e5-32ca-b8ec-f153683043d6},
 created = {2017-06-19T13:45:43.517Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:45:43.632Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>0036-8075<m:linebreak/>Journal Article<m:linebreak/>Review<m:linebreak/>Review, Tutorial</m:note>},
 abstract = {The role of genetics in determining life-span is complex and paradoxical. Although the heritability of life-span is relatively minor, some genetic variants significantly modify senescence of mammals and invertebrates, with both positive and negative impacts on age-related disorders and life-spans. In certain examples, the gene variants alter metabolic pathways, which could thereby mediate interactions with nutritional and other environmental factors that influence life-span. Given the relatively minor effect and variable penetrance of genetic risk factors that appear to affect survival and health at advanced ages, life-style and other environmental influences may profoundly modify outcomes of aging.},
 bibtype = {article},
 author = {Finch, C E and Tanzi, R E},
 journal = {Science},
 number = {5337}
}

@article{pouget_spatial_1997,
	title = {Spatial transformations in the parietal cortex using basis functions},
	volume = {9},
	doi = {10/djdwsp},
	abstract = {Sensorimotor transformations are nonlinear mappings of sensory inputs to motor responses. We explore here the possibility that the responses of single neurons in the parietal cortex serve as basis functions for these transformations. Basis function decomposition is a general method for approximating nonlinear functions that is computationally efficient and well suited for adaptive modification. In particular, the responses of single parietal neurons can be approximated by the product of a Gaussian function of retinal location and a sigmoid function of eye position, called a gain field. A large set of such functions forms a basis set that can be used to perform an arbitrary motor response through a direct projection. We compare this hypothesis with other approaches that are commonly used to model population codes, such as computational maps and vectorial representations. Neither of these alternatives can fully account for the responses of parietal neurons, and they are computationally less efficient for nonlinear transformations. Basis functions also have the advantage of not depending on any coordinate system or reference frame. As a consequence, the position of an object can be represented in multiple reference frames simultaneously, a property consistent with the behavior of hemineglect patients with lesions in the parietal cortex.},
	number = {2},
	journal = {Journal of Cognitive Neuroscience},
	author = {Pouget, A. and Sejnowski, T.J.},
	year = {1997},
	keywords = {\#nosource, *Models, Psychological, *Space Perception, Human, Perceptual Disorders/*physiopathology, Recognition (Psychology), Support, Non-U.S. Gov't, Support, U.S. Gov't, Non-P.H.S.},
	pages = {222--237},
}

@article{
 title = {Family history and risk of colorectal cancer in the multiethnic population of Hawaii},
 type = {article},
 year = {1996},
 identifiers = {[object Object]},
 keywords = {*Family,Aged,Asian Americans,Case-Control Studies,Colorectal Neoplasms/epidemiology/*ethnology,Comparative Study,Female,Hawaii/epidemiology,Human,Japan/ethnology,Male,Middle Age,Questionnaires,Risk Factors,Support, U.S. Gov't, P.H.S.},
 pages = {1122-8.},
 volume = {144},
 id = {d6910ad1-48e7-3d10-b2d7-2c37f5949c18},
 created = {2017-06-19T13:44:57.428Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:44:57.580Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 abstract = {Increased risk of colorectal cancer in individuals with family history of the disease has been observed consistently in past studies. However, limited attention has been given to the influence of ethnicity, the characteristics of the proband's tumor, and kinship. A population-based case-control study was conducted between 1987 and 1991 in Hawaii among 1,192 incident colorectal cancer cases and 1,192 sex-, age-, and ethnicity-matched population controls. The study identified 7,673 relatives for the cases and 7,823 relatives for the controls. With an estimating equation-based regression method, relatives of cases were found to have a 2.5-fold increased risk of colorectal cancer compared with relatives of controls (95% confidence interval (CI) 1.8-3.4) after adjustment for covariates. This increase in risk was greater for Japanese (odds ratio (OR) = 3.0, 95% CI 1.7-5.4) than Caucasians (OR = 1.8, 95% CI 1.2-2.9), for siblings (OR = 3.1, 95% CI 2.1-4.6) than parents (OR = 2.0, 95% CI 1.1-3.1), and when the index patient was diagnosed before the age of 55 years (OR = 4.1, 95% CI 2.1-8.0) with multiple tumors (OR = 9.5, 95% CI 4.4-20.6), with a distant stage (OR = 4.6, 95% CI 2.7-7.8), or with cancer of the right colon (OR = 3.0, 95% CI 2.0-4.4) or the rectum (OR = 3.0, 95% CI 1.8-4.8). The increase in risk was not affected by the relative's sex. Relatives of cases were not at increased risk for other common cancers. It is estimated that approximately 11.1% and 6.5% of colorectal cancers are attributable to a first degree family history of the disease for Japanese and Caucasians, respectively. These data and those of previous studies strongly suggest that individuals with a family history of colorectal cancer in a first degree relative are at increased risk for the disease and should receive regular diagnostic screening. Characteristics of the index case, such as age and stage at diagnosis, subsite and number of tumors, and race, as well as kinship, may be important in assessing the colorectal cancer risk of a relative.},
 bibtype = {article},
 author = {Le Marchand, L and Zhao, L P and Quiaoit, F and Wilkens, L R and Kolonel, L N},
 journal = {Am J Epidemiol},
 number = {12}
}

Paper  abstract   bibtex   

@article{
 title = {Frequencies of cystic fibrosis mutations in the Maine population: high proportion of unknown alleles in individuals of French-Canadian ancestry},
 type = {article},
 year = {1996},
 identifiers = {[object Object]},
 keywords = {*Mutation,Alleles,Canada/ethnology,Cystic Fibrosis Transmembrane Conductance Regulato,Cystic Fibrosis/epidemiology/*genetics,Female,France/ethnology,Gene Frequency,Genotype,Human,Maine/epidemiology,Male,Support, Non-U.S. Gov't,Support, U.S. Gov't, Non-P.H.S.,Support, U.S. Gov't, P.H.S.},
 pages = {207-209},
 volume = {98},
 id = {8cc8243a-e20d-3e84-beb1-dddbcca4a389},
 created = {2017-06-19T13:44:32.001Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:44:32.125Z},
 tags = {04/09/01},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>Journal Article</m:note>},
 abstract = {Cystic fibrosis (CF) is one of the most common severe autosomal recessive disorders in Caucasian populations. A mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene causes this disorder. Reported here is the first analysis of CF mutations in the Maine population. We have screened 263 CF chromosomes for 16 previously reported mutations. Analysis of DNA from 124 apparently unrelated CF patients and 15 obligate carrier parents (whose partner and affected child were unavailable for study) resulted in the identification of 91% of the CF alleles and complete genotyping of 85% of the patients. The frequencies (%) of these mutations in the Maine population are delta F508 (75% of the chromosomes), G85E (0.76), R117H (0.76), I148T (1.1), 621 + 1G --> T (1.1), 711 + 1G --> T (3.0), A455E (1.1), 1717-1G --> A (1.1), G542X (1.9), G551D (1.9), R560T (0.76), Y1092X (0.38), W1282X (0.38), and N1303K (1.5). The exon 10 mutation, delta I507, and the exon 11 mutation, R553X, were not observed. Surprisingly, whereas only 5% of the alleles remain unidentified in the non-French population, the unidentified proportion in the French population is 19%. CF testing for the Maine population will be further improved as the as yet unidentified CF mutations in this population are characterized.},
 bibtype = {article},
 author = {Bayleran, J K and Yan, H and Hopper, C A and Simpson, E M},
 journal = {Hum Genet},
 number = {2}
}

@Article{Meister1996,
  author   = {M Meister},
  journal  = {Proc Natl Acad Sci U S A},
  title    = {Multineuronal codes in retinal signaling.},
  year     = {1996},
  number   = {2},
  pages    = {609-14},
  volume   = {93},
  abstract = {The visual world is presented to the brain through patterns of action
	potentials in the population of optic nerve fibers. Single-neuron
	recordings show that each retinal ganglion cell has a spatially restricted
	receptive field, a limited integration time, and a characteristic
	spectral sensitivity. Collectively, these response properties define
	the visual message conveyed by that neuron's action potentials. Since
	the size of the optic nerve is strictly constrained, one expects
	the retina to generate a highly efficient representation of the visual
	scene. By contrast, the receptive fields of nearby ganglion cells
	often overlap, suggesting great redundancy among the retinal output
	signals. Recent multineuron recordings may help resolve this paradox.
	They reveal concerted firing patterns among ganglion cells, in which
	small groups of nearby neurons fire synchronously with delays of
	only a few milliseconds. As there are many more such firing patterns
	than ganglion cells, such a distributed code might allow the retina
	to compress a large number of distinct visual messages into a small
	number of optic nerve fibers. This paper will review the evidence
	for a distributed coding scheme in the retinal output. The performance
	limits of such codes are analyzed with simple examples, illustrating
	that they allow a powerful trade-off between spatial and temporal
	resolution.},
  keywords = {Action Potentials, Models, Neurological, Nerve Net, Optic Nerve, Retinal Ganglion Cells, Signal Transduction, Support, Non-U.S. Gov't, U.S. Gov't, Non-P.H.S., P.H.S., Visual Perception, 8570603},
}

@Article{Leopold1996,
  author   = {D. A. Leopold and N. K. Logothetis},
  journal  = {Nature},
  title    = {Activity changes in early visual cortex reflect monkeys' percepts during binocular rivalry.},
  year     = {1996},
  number   = {6565},
  pages    = {549-53},
  volume   = {379},
  abstract = {When the two eyes view dissimilar images, we experience binocular
	rivalry, in which one eye's view dominates for several seconds and
	is then replaced by that of the other eye. What causes these perceptual
	changes in the absence of any change in the stimulus? We showed previously
	that some neurons in monkey cortical area MT show changes in activity
	during motion rivalry that reflect the perceived direction of motion.
	To determine whether perception-related modulation of activity occurs
	in other visual cortical areas, we recorded from individual neurons
	in V1, V2 and V4 while monkeys reported the perceived orientation
	of rival gratings of two orthogonal orientations. Many cells, particularly
	in V4, showed patterns of activity that correlated with the perceptual
	dominance and suppression of one stimulus. The majority were orientation-selective
	and could be driven equally well from either eye. It has been previously
	suggested that binocular rivalry involves reciprocal inhibition between
	monocular neurons within V1 (for example, see ref. 4), but our results
	do not support this view; rather, we propose that binocular rivalry
	arises through interactions between binocular neurons at several
	levels in the visual pathways, and that similar mechanisms may underlie
	other multistable perceptual states that occur when viewing ambiguous
	images.},
  doi      = {10.1038/379549a0},
  keywords = {Animals, Binocular, Humans, Macaca mulatta, Neurons, Non-P.H.S., P.H.S., Research Support, U.S. Gov't, Vision, Visual Cortex, Visual Perception, 8596623},
}

@article{
 title = {Nonparametric simulation-based statistics for detecting linkage in general pedigrees},
 type = {article},
 year = {1996},
 identifiers = {[object Object]},
 keywords = {*Computer Simulation,*Linkage (Genetics),*Models, Genetic,*Models, Statistical,*Pedigree,Algorithms,Alleles,Ataxia/genetics,Family,Genetic Markers,Genotype,Human,Statistics, Nonparametric,Support, Non-U.S. Gov't,Support, U.S. Gov't, P.H.S.},
 pages = {867-80.},
 volume = {58},
 id = {75a13132-eab6-3632-b2e0-43cf95295b98},
 created = {2017-06-19T13:44:55.544Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:44:55.677Z},
 tags = {02/07/02},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 abstract = {We present here four nonparametric statistics for linkage analysis that test whether pairs of affected relatives share marker alleles more often than expected. These statistics are based on simulating the null distribution of a given statistic conditional on the unaffecteds' marker genotypes. Each statistic uses a different measure of marker sharing: the SimAPM statistic uses the simulation-based affected-pedigree-member measure based on identity-by-state (IBS) sharing. The SimKIN (kinship) measure is 1.0 for identity-by-descent (IBD) sharing, 0.0 for no IBD status sharing, and the kinship coefficient when the IBD status is ambiguous. The simulation-based IBD (SimIBD) statistic uses a recursive algorithm to determine the probability of two affecteds sharing a specific allele IBD. The SimISO statistic is identical to SimIBD, except that it also measures marker similarity between unaffected pairs. We evaluated our statistics on data simulated under different two-locus disease models, comparing our results to those obtained with several other nonparametric statistics. Use of IBD information produces dramatic increases in power over the SimAPM method, which uses only IBS information. The power of our best statistic in most cases meets or exceeds the power of the other nonparametric statistics. Furthermore, our statistics perform comparisons between all affected relative pairs within general pedigrees and are not restricted to sib pairs or nuclear families.},
 bibtype = {article},
 author = {Davis, S and Schroeder, M and Goldin, L R and Weeks, D E},
 journal = {Am J Hum Genet},
 number = {4}
}

@article{beale_categorical_1995,
	title = {Categorical effects in the perception of faces},
	volume = {57},
	abstract = {These studies suggest categorical perception effects may be much more general than has commonly been believed and can occur in apparently similar ways at dramatically different levels of processing. To test the nature of individual face representations, a linear continuum of "morphed" faces was generated between individual exemplars of familiar faces. In separate categorization, discrimination and "better-likeness" tasks, subjects viewed pairs of faces from these continua. Subjects discriminate most accurately when face-pairs straddle apparent category boundaries; thus individual faces are perceived categorically. A high correlation is found between the familiarity of a face-pair and the magnitude of the categorization effect. Categorical perception therefore is not limited to low-level perceptual continua, but can occur at higher levels and may be acquired through experience as well.},
	number = {3},
	journal = {Cognition},
	author = {Beale, J M and Keil, F C},
	year = {1995},
	pmid = {8556842},
	keywords = {*Face, *Visual Perception, Facial Expression, Humans, Research Support, U.S. Gov't, P.H.S.},
	pages = {217--239},
}

@article{
 title = {Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic data},
 type = {article},
 year = {1995},
 identifiers = {[object Object]},
 keywords = {*Evolution,*Genetics, Population,*Polymorphism (Genetics),Africa,Asia,Base Sequence,DNA, Mitochondrial/*genetics,Europe,Human,Molecular Sequence Data,Support, Non-U.S. Gov't,Support, U.S. Gov't, Non-P.H.S.,Support, U.S. Gov't, P.H.S.,Variation (Genetics)},
 pages = {523-38.},
 volume = {57},
 id = {c8fcd55c-4113-3c06-a1da-02b7e95168c7},
 created = {2017-06-19T13:42:45.605Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:42:45.719Z},
 tags = {02/02/18},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 abstract = {To test hypotheses about the origin of modern humans, we analyzed mtDNA sequences, 30 nuclear restriction-site polymorphisms (RSPs), and 30 tetranucleotide short tandem repeat (STR) polymorphisms in 243 Africans, Asians, and Europeans. An evolutionary tree based on mtDNA displays deep African branches, indicating greater genetic diversity for African populations. This finding, which is consistent with previous mtDNA analyses, has been interpreted as evidence for an African origin of modern humans. Both sets of nuclear polymorphisms, as well as a third set of trinucleotide polymorphisms, are highly consistent with one another but fail to show deep branches for African populations. These results, which represent the first direct comparison of mtDNA and nuclear genetic data in major continental populations, undermine the genetic evidence for an African origin of modern humans.},
 bibtype = {article},
 author = {Jorde, L B and Bamshad, M J and Watkins, W S and Zenger, R and Fraley, A E and Krakowiak, P A and Carpenter, K D and Soodyall, H and Jenkins, T and Rogers, A R},
 journal = {Am J Hum Genet},
 number = {3}
}

@article{niebur_model_1994,
	title = {A model for the neuronal implementation of selective visual attention based on temporal correlation among neurons.},
	volume = {1},
	abstract = {We propose a model for the neuronal implementation of selective visual attention based on temporal correlation among groups of neurons. Neurons in primary visual cortex respond to visual stimuli with a Poisson distributed spike train with an appropriate, stimulus-dependent mean firing rate. The spike trains of neurons whose receptive fields do not overlap with the "focus of attention" are distributed according to homogeneous (time-independent) Poisson process with no correlation between action potentials of different neurons. In contrast, spike trains of neurons with receptive fields within the focus of attention are distributed according to non-homogeneous (time-dependent) Poisson processes. Since the short-term average spike rates of all neurons with receptive fields in the focus of attention covary, correlations between these spike trains are introduced which are detected by inhibitory interneurons in V4. These cells, modeled as modified integrate-and-fire neurons, function as coincidence detectors and suppress the response of V4 cells associated with non-attended visual stimuli. The model reproduces quantitatively experimental data obtained in cortical area V4 of monkey by Moran and Desimone (1985).},
	language = {eng},
	number = {1-2},
	journal = {J Comput Neurosci},
	author = {Niebur, E and Koch, C},
	year = {1994},
	pmid = {8792229},
	note = {Place: UNITED STATES
ISBN: 0929-5313},
	keywords = {Animals, Macaca, Membrane Potentials, Neural Networks (Computer), Time Factors, Visual Pathways, research support, u.s. gov't, non-p.h.s.},
	pages = {141--158},
}

Paper  abstract   bibtex   

@article{
 title = {Genetic structure of the Utah Mormons: comparison of results based on RFLPs, blood groups, migration matrices, isonymy, and pedigrees},
 type = {article},
 year = {1994},
 identifiers = {[object Object]},
 keywords = {*Christianity,*Ethnic Groups,*Genetics,*Racial Stocks,*Transients and Migrants,Blood Groups,Comparative Study,DNA/*genetics,Gene Frequency,Human,Male,Names,Non-P.H.S.,P.H.S.,Pedigree,Polymorphism,Population,Restriction Fragment Length,Support,U.S. Gov't,Utah,Variation (Genetics)},
 pages = {743-59.},
 volume = {66},
 id = {24139016-141a-38b6-b681-bf650f1203f6},
 created = {2017-06-19T13:43:26.836Z},
 file_attached = {true},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:43:26.976Z},
 tags = {02/02/15},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 abstract = {The genetic structure of the Utah Mormon population is examined using 25 blood group and 47 RFLP alleles obtained from 442 subjects living in 8 geographic subdivisions. Nei's GST was 0.013 (p < 0.002) for the RFLP data and 0.012 (p > 0.4) for the blood group data, showing that only 1% of the genetic variance in this population can be attributed to subdivision effects. A comparison of intersubdivision distance matrices based on blood groups, RFLPs, migration matrices, isonymy, and pedigrees shows that genetic distances have relatively low and nonsignificant correlations with the other three types of data. However, the correlations based on RFLPs are considerably higher than those based on blood groups. Relationship matrices based on interindividual allele sharing were compared with known genealogical kinship coefficients between each pair of individuals. The correlation between the blood group and RFLP relationship matrices was small but marginally significant using the Mantel test (r = 0.014, p < 0.06). The RFLP relationship matrix correlated more highly with genealogical kinship than did the blood group relationship matrix (r = 0.023, p < 0.0001 and r = 0.012, p < 0.001, respectively). These correlations increased by approximately one order of magnitude when pairs of subjects having zero kinship coefficients were excluded. These results show that genetic distances derived from RFLPs correlate more strongly with other types of kinship than do distances based on blood groups. This probably reflects the fact that RFLPs are more neutral, have frequencies that are more accurately estimated, and contain more information about DNA sequence variation.},
 bibtype = {article},
 author = {O'Brien, E and Rogers, A R and Beesley, J and Jorde, L B},
 journal = {Hum Biol},
 number = {5}
}

@article{bradley_measuring_1994,
	title = {Measuring emotion: the {Self}-{Assessment} {Manikin} and the {Semantic} {Differential}.},
	volume = {25},
	abstract = {The Self-Assessment Manikin (SAM) is a non-verbal pictorial assessment technique that directly measures the pleasure, arousal, and dominance associated with a person's affective reaction to a wide variety of stimuli. In this experiment, we compare reports of affective experience obtained using SAM, which requires only three simple judgments, to the Semantic Differential scale devised by Mehrabian and Russell (An approach to environmental psychology, 1974) which requires 18 different ratings. Subjective reports were measured to a series of pictures that varied in both affective valence and intensity. Correlations across the two rating methods were high both for reports of experienced pleasure and felt arousal. Differences obtained in the dominance dimension of the two instruments suggest that SAM may better track the personal response to an affective stimulus. SAM is an inexpensive, easy method for quickly assessing reports of affective response in many contexts.},
	language = {eng},
	number = {1},
	journal = {J Behav Ther Exp Psychiatry},
	author = {Bradley, M M and Lang, P J},
	year = {1994},
	pmid = {7962581},
	note = {Place: UNITED STATES
ISBN: 0005-7916},
	keywords = {Adult, Affect, Arousal, Emotions, Factor Analysis, Statistical, Female, Humans, Internal-External Control, Male, MicroValence, Personality Inventory, Psychometrics, Semantic Differential, comparative study, research support, u.s. gov't, p.h.s.},
	pages = {49--59},
}

@article{
 title = {A unified approach to study hypervariable polymorphisms: statistical considerations of determining relatedness and population distances},
 type = {article},
 year = {1993},
 identifiers = {[object Object]},
 keywords = {*Polymorphism (Genetics),*Variation (Genetics),Alleles,Animal,Biometry,DNA Fingerprinting,Evolution,Female,Genetic Markers,Genetics, Population,Human,Male,Support, U.S. Gov't, Non-P.H.S.,Support, U.S. Gov't, P.H.S.},
 pages = {153-75.},
 volume = {67},
 id = {7058fa2e-5dbb-3974-beb5-0c57ac4e7835},
 created = {2017-06-19T13:46:04.396Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:46:04.499Z},
 tags = {02/02/15},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article<m:linebreak/>Review<m:linebreak/>Review, Tutorial</m:note>},
 abstract = {Relatedness between individuals as well as evolutionary relationships between populations can be studied by comparing genotypic similarities between individuals. When hypervariable loci are used to describe genotypes, it is shown that both of these problems can be approached with a unified theory based on allele sharing between individuals. The distributions of the number of shared alleles between individuals indicate their kin relationships. Extending this, we obtain statistics for genetic distances between populations based on average number of alleles shared between individuals within and between two different populations. Traditional statistical inferential procedure can be used to establish specific kinship relationships between individuals. We derive estimates of the number of hypervariable loci needed for a specified reliability of such an inference. Evolutionary dynamics of genetic distance statistics based on allele sharing is also studied. It shows that such measures of genetic distances remain linear with the time of divergence for a period comparable to that of the gene frequency-based measures of genetic distances. Statistical properties of measures based on allele sharing establish that for using such summary statistics it is not necessary to know the full characteristics of all loci used. It is enough to know the degree of heterozygosity per locus and the number of loci. Therefore, in principle, this approach can also be used for DNA fingerprinting data in the studies of relatedness between individuals as well as between populations. The possible compromising features of multilocus DNA fingerprinting data are also discussed.},
 bibtype = {article},
 author = {Chakraborty, R and Jin, L},
 journal = {Exs}
}

@article{
 title = {The anthropological perspective in genetic epidemiology},
 type = {article},
 year = {1993},
 identifiers = {[object Object]},
 keywords = {*Epidemiologic Methods,*Epidemiology,*Genetics,Anthropology, Physical/*methods,Human,Support, U.S. Gov't, P.H.S.},
 pages = {1025-8.},
 volume = {65},
 id = {c3763605-ecf2-3a27-83c8-316bb1ceadb5},
 created = {2017-06-19T13:42:58.053Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:42:58.142Z},
 tags = {02/02/04},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 bibtype = {article},
 author = {MacCluer, J W},
 journal = {Hum Biol},
 number = {6}
}

Website  abstract   bibtex   

@article{
 title = {Longevity is moderately heritable in a sample of Danish twins born 1870-1880},
 type = {article},
 year = {1993},
 identifiers = {[object Object]},
 keywords = {Aged,Female,Humans,Life Expectancy,Longevity/*genetics,Male,Research Support, U.S. Gov't, P.H.S.,Socioeconomic Factors,Twins/*genetics},
 pages = {B237-44},
 volume = {48},
 websites = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=8227991},
 id = {a38c8e13-f0fc-321f-9c8b-f8ef7a7917ad},
 created = {2017-06-19T13:44:58.021Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:44:58.114Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>0022-1422<m:linebreak/>Journal Article</m:note>},
 abstract = {The heritability of human longevity was investigated in a sample of 218 pairs of monozygotic (MZ) and 382 pairs of like-sex dizygotic (DZ) Danish twin pairs born 1870-1880. Twin similarity for age at death was significant for MZ twins but nonsignificant for DZ twins. The heritability (h2) of life span estimated from the best-fitting biometrical model was statistically significant but moderate in magnitude (h2 = .333 +/- .058). Heritability of longevity did not vary by gender, and the pattern of twin resemblance was more consistent with nonadditive as compared to additive genetic effects. In addition, evidence for a genetic association between premature and senescent deaths was observed. Although environmental factors accounted for a majority of the variance in life span, the relevant environmental factors appeared to be those that create differences rather than similarities among reared-together relatives. Findings are discussed in terms of their relevance for understanding the inheritance and evolution of human life span.},
 bibtype = {article},
 author = {McGue, M and Vaupel, J W and Holm, N and Harvald, B},
 journal = {J Gerontol},
 number = {6}
}

@article{
 title = {Calculation of genetic identity coefficients},
 type = {article},
 year = {1992},
 identifiers = {[object Object]},
 keywords = {*Genetics,*Genotype,Female,Human,Male,Mathematics,Pedigree,Probability,Support, Non-U.S. Gov't,Support, U.S. Gov't, P.H.S.},
 pages = {339-46.},
 volume = {56},
 id = {11a22ff1-92af-306f-bad9-52a02a7ff82b},
 created = {2017-06-19T13:43:15.283Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:43:15.392Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 abstract = {Genetic identity coefficients define the kind and amount of gene sharing between two relatives at a single locus. Non-recursive computation of these probabilities depends on cumbersome graph-tracing algorithms. Closely related to the identity coefficients are certain generalized kinship coefficients which can be computed recursively. The present paper clarifies some ideas of Karigl about how to relate identity coefficients to generalized kinship coefficients.},
 bibtype = {article},
 author = {Lange, K and Sinsheimer, J S},
 journal = {Ann Hum Genet},
 number = {Pt 4}
}

@article{schein_spectral_1990,
	title = {Spectral properties of {V4} neurons in the macaque.},
	volume = {10},
	abstract = {Spectral properties of 129 cells in the V4 area of 5 macaque monkeys were studied quantitatively with narrow-band and broad-band colored lights. The large majority of cells exhibited some degree of wavelength sensitivity within their receptive fields. The half-bandwidth of the primary peak in the spectral-response curve was less than 50 nm for 72\% of the cells; the mean half-bandwidth of these cells, 27 nm, is similar to that found for color-opponent ganglion cells and cells in the parvocellular dorsal lateral geniculate nucleus (dLGN). Contrast-response functions indicated that the narrow spectral tuning of these cells derived from cone opponent interactions. From comparison of receptive-field sizes, we suggest that a typical V4 neuron sums inputs that ultimately derive from several thousand ganglion or parvocellular dLGN cells. In spite of their wavelength sensitivity, most V4 cells had properties that would not fit some simple criteria for classification as "color selective." First, few cells showed overt signs of color opponency, namely, on-inhibition or off-excitation to spectrally opponent wavelengths. Second, about 30\% of the cells in V4 had spectral-response curves with 2 peaks. (The wavelength distribution of these second peaks was almost identical to that of primary peaks, and combinations of peak wavelengths were fairly random.) Third, most cells responded to white light; overall, the response to white light was about 60\% of that to the best narrow-band or broad-band colored light. Similarly, most V4 cells gave at least a small response to all or nearly all of the different broad-band colored lights we presented. Therefore, a given V4 cell is very likely to respond to most of the colored or white surfaces in natural scenes. These combinations of response properties probably explain the widely divergent percentages of "color" cells reported in previous studies of V4. The most unusual spectral property we found in V4 was a large, spectrally sensitive surround outside the "classical receptive field" of most cells. Although stimulation of the surround by itself did not cause any response, surround stimulation could completely suppress the response to even the optimally colored stimulus in the receptive field. In general, the optimal wavelengths for receptive-field excitation and surround suppression were the same or nearly so. Thus, "color contrast" may be computed in V4. In some cases, contrasting wavelengths in the surround caused moderate enhancement of response to a receptive-field stimulus.(ABSTRACT TRUNCATED AT 400 WORDS)},
	language = {eng},
	number = {10},
	journal = {J Neurosci},
	author = {Schein, S J and Desimone, R},
	year = {1990},
	pmid = {2213146},
	note = {Place: UNITED STATES
ISBN: 0270-6474},
	keywords = {Animals, Cerebral Cortex, Color Perception, Macaca fascicularis, Neurons, Photic Stimulation, Spectrophotometry, Visual Cortex, research support, non-u.s. gov't, research support, u.s. gov't, p.h.s.},
	pages = {3369--3389},
}

@Article{Knudsen1990,
  author   = {EI Knudsen and PF Knudsen},
  journal  = {J Neurosci},
  title    = {Sensitive and critical periods for visual calibration of sound localization by barn owls.},
  year     = {1990},
  number   = {1},
  pages    = {222-32},
  volume   = {10},
  abstract = {This study describes developmental changes in the capacity of owls
	to adjust sound localization in response to chronic prismatic displacement
	of the visual field and to recover accurate sound localization following
	the restoration of normal vision. Matched, binocular displacing prisms
	were mounted over the eyes of 19 barn owls (Tyto alba) beginning
	at ages ranging from 10 to 272 d. In nearly all cases, the visual
	field was shifted 23 degrees to the right. Sound localization was
	assessed on the basis of head orientations to sound sources, measured
	in a darkened sound chamber with a search coil system. Chronic exposure
	to a displaced visual field caused the owls to alter sound localization
	in the direction of the visual field displacement, thereby inducing
	a sound-localization error. The size of the sound-localization error
	that resulted depended on the age of the animal when prism experience
	began. Maximal errors of about 20 degrees were induced only when
	prism experience began by 21 d of age. As prism experience began
	at later ages, the magnitude of induced errors decreased. A bird
	that wore prisms beginning at 102 d of age, altered sound localization
	by only 6 degrees. An adult owl, when exposed chronically to a displaced
	visual field, altered sound localization by about 3 degrees. We refer
	to the early period in life when displaced vision induces exceptionally
	large sound-localization errors (relative to those induced in the
	adult) as a sensitive period. The capacity to recover accurate sound
	localization following restoration of normal vision was tested in
	7 owls that had been raised wearing prisms. Four owls that had prisms
	removed by 182 d of age recovered accurate localization rapidly (over
	a period of weeks), whereas 3 owls that were older when the prisms
	were removed did not recover accurate localization when tested for
	up to 7 months after prism removal. Adjustment of sound localization
	slowed greatly or ceased at about 200 days of age, referred to here
	as the critical period for visual calibration of sound localization.
	Three owls were subjected repetitively to displacement of the visual
	field. An owl that adjusted sound localization to the left of normal
	during the sensitive period retained the capacity to adjust again
	to the left, but not to the right of normal, later in the critical
	period. The converse was true for an owl that adjusted sound localization
	to the right of normal during the sensitive period.(ABSTRACT TRUNCATED
	AT 400 WORDS)},
  keywords = {Adaptation, Physiological, Aging, Animals, Auditory Perception, Birds, Calibration, Sound Localization, Support, U.S. Gov't, P.H.S., Vision, Visual Fields, 2299394},
}

Paper  doi  abstract   bibtex   

@article{laberge_positron_1990,
	title = {Positron emission tomographic measurements of pulvinar activity during an attention task},
	volume = {10},
	url = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=2303863},
	doi = {10/grrsr8},
	abstract = {Positron emission tomographic scans were recorded from human subjects following an object-identification task, one version of which required attentional selection and the other version of which did not. In one experimental session, the attention-demanding displays were presented in the left visual field and the nonattention displays were presented in the right visual field. In a second session, the sides of the displays were reversed. Analysis of the scans indicated that, averaged across the 2 sessions, the pulvinar showed greater glucose uptake when it was contralateral to the display of the selective attention task than when it was contralateral to the display of the nonattention task. The pattern of the data indicated that the degree of the attention task effect on pulvinar glucose uptake may differ between the hemispheres. In view of known connections between the pulvinar and cortical areas that mediate object identification, the present finding suggests that the pulvinar operates interactively with these cortical structures when an identification process demands selective attention.},
	number = {2},
	journal = {Journal of Neuroscience},
	author = {LaBerge, D. and Buchsbaum, M.S.},
	year = {1990},
	keywords = {\#nosource, *Tomography, Emission-Computed, Adult, Attention/*physiology, Behavior/physiology, Female, Glucose/metabolism, Humans, Magnetic Resonance Imaging, Occipital Lobe/metabolism, Reaction Time, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S., Thalamic Nuclei/*physiology/radionuclide imaging, Thalamus/metabolism},
	pages = {613--619},
}

Paper  doi  bibtex   

@article{posner_attention_1990,
	title = {The attention system of the human brain},
	volume = {13},
	url = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=2183676},
	doi = {10/b486gb},
	journal = {Annu Rev Neurosci},
	author = {Posner, M.I. and Petersen, S.E.},
	year = {1990},
	keywords = {\#nosource, Attention/*physiology, Brain/*physiology, Humans, Laterality/*physiology, Pattern Recognition, Visual/physiology, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S.},
	pages = {25--42},
}

@Article{McLean1989,
  author   = {J McLean and LA Palmer},
  journal  = {Vision Res},
  title    = {Contribution of linear spatiotemporal receptive field structure to velocity selectivity of simple cells in area 17 of cat.},
  year     = {1989},
  number   = {6},
  pages    = {675-9},
  volume   = {29},
  abstract = {We have examined the spatiotemporal structure of simple receptive
	fields in the cat's striate cortex by cross-correlating their spike
	trains with an ensemble of stimuli consisting of stationary bright
	and dark spots whose position was randomized on each 50 msec frame.
	Receptive fields were found to be either separable or inseparable
	in space-time and responses to moving stimuli were predicted from
	the spatiotemporal structure of the cell under study. Most simple
	cells with separable spatiotemporal receptive fields were not direction
	selective. All simple cells with inseparable spatiotemporal receptive
	fields were found to prefer movement in one direction. The optimal
	speed and direction were estimable from the slope of individual subregions
	observed in the space-time plane. The results are consistent with
	a linear model for direction selectivity.},
  keywords = {Computing Methodologies, Human, Language, Learning, Mental Processes, Models, Theoretical, Stochastic Processes, Support, U.S. Gov't, Non-P.H.S., Cognition, Linguistics, Neural Networks (Computer), Practice (Psychology), Non-U.S. Gov't, Memory, Psychological, Task Performance and Analysis, Time Factors, Visual Perception, Adult, Attention, Discrimination Learning, Female, Male, Short-Term, Mental Recall, Orientation, Pattern Recognition, Visual, Perceptual Masking, Reading, Concept Formation, Form Perception, Animals, Corpus Striatum, Shrews, P.H.S., Visual Cortex, Visual Pathways, Acoustic Stimulation, Auditory Cortex, Auditory Perception, Cochlea, Ear, Gerbillinae, Glycine, Hearing, Neurons, Space Perception, Strychnine, Adolescent, Decision Making, Reaction Time, Astrocytoma, Brain Mapping, Brain Neoplasms, Cerebral Cortex, Electric Stimulation, Electrophysiology, Epilepsy, Temporal Lobe, Evoked Potentials, Frontal Lobe, Noise, Parietal Lobe, Scalp, Child, Language Development, Psycholinguistics, Brain, Perception, Speech, Vocalization, Animal, Discrimination (Psychology), Hippocampus, Rats, Calcium, Chelating Agents, Excitatory Postsynaptic Potentials, Glutamic Acid, Guanosine Diphosphate, In Vitro, Neuronal Plasticity, Pyramidal Cells, Receptors, AMPA, Metabotropic Glutamate, N-Methyl-D-Aspartate, Somatosensory Cortex, Synapses, Synaptic Transmission, Thionucleotides, Action Potentials, Calcium Channels, L-Type, Electric Conductivity, Entorhinal Cortex, Neurological, Long-Evans, Infant, Mathematics, Statistics, Probability Learning, Problem Solving, Psychophysics, Association Learning, Child Psychology, Habituation (Psychophysiology), Probability Theory, Analysis of Variance, Semantics, Symbolism, Behavior, Eye Movements, Macaca mulatta, Prefrontal Cortex, Cats, Dogs, Haplorhini, Photic Stimulation, Electroencephalography, Nervous System Physiology, Darkness, Grasshoppers, Light, Membrane Potentials, Neural Inhibition, Afferent, Picrotoxin, Vision, Deoxyglucose, Injections, Microspheres, Neural Pathways, Rhodamines, Choice Behavior, Speech Perception, Verbal Learning, Dominance, Cerebral, Fixation, Ocular, Language Tests, Random Allocation, Comparative Study, Saguinus, Sound Spectrography, Species Specificity, Audiometry, Auditory Threshold, Calibration, Data Interpretation, Statistical, Anesthesia, General, Electrodes, Implanted, Pitch Perception, Sound Localization, Paired-Associate Learning, Serial Learning, Auditory, Age Factors, Motion Perception, Brain Injuries, Computer Simulation, Blindness, Psychomotor Performance, Color Perception, Signal Detection (Psychology), Judgment, ROC Curve, Regression Analysis, Music, Probability, Arm, Cerebrovascular Disorders, Hemiplegia, Movement, Muscle, Skeletal, Myoclonus, Robotics, Magnetoencephalography, Phonetics, Software, Speech Production Measurement, Epilepsies, Partial, Laterality, Stereotaxic Techniques, Germany, Speech Acoustics, Verbal Behavior, Child Development, Instinct, Brain Stem, Coma, Diagnosis, Differential, Hearing Disorders, Hearing Loss, Central, Neuroma, Acoustic, Dendrites, Down-Regulation, Patch-Clamp Techniques, Wistar, Up-Regulation, Aged, Aphasia, Middle Aged, Cones (Retina), Primates, Retina, Retinal Ganglion Cells, 2626824},
}

@article{
 title = {Isolation by distance on the Island of Korcula: correlation analysis of distance measures},
 type = {article},
 year = {1988},
 identifiers = {[object Object]},
 keywords = {*Anthropometry,*Dermatoglyphics,*Genetics, Population,*Rural Population,*Social Environment,*Social Isolation,Female,Human,Male,Support, U.S. Gov't, Non-P.H.S.,Yugoslavia},
 pages = {97-103.},
 volume = {77},
 id = {17517e63-11e9-3896-8f0a-960853e28e9c},
 created = {2017-06-19T13:42:46.587Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:42:46.723Z},
 tags = {02/03/08},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>eng<m:linebreak/>Journal Article</m:note>},
 abstract = {Within the framework of holistic anthropological investigations of the rural populations on the Island of Korcula, various measures of biological distances between eight villages were estimated (Mahalanobis' D2 for anthropometric, physiological, and dermatoglyphic traits); socio-cultural similarities and distances were determined (kinship coefficient estimated from migrational data and Hemming similarity measure estimated from linguistic data). A matrix of Spearman's rank correlation coefficients among these measures demonstrated a pattern of interdependencies, which we analysed further by principal components analysis. The first component reflects the cumulative effect of different processes acting on the initial gene distribution over a long period of time; the second component represents initial population structure; and the third component reflects recent migration influences.},
 bibtype = {article},
 author = {Rudan, P and Simic, D and Bennett, L A},
 journal = {Am J Phys Anthropol},
 number = {1}
}

@article{
 title = {Genetic structure of the Saguenay, 1852-1911: evidence from migration and isonymy matrices},
 type = {article},
 year = {1988},
 identifiers = {[object Object]},
 keywords = {*Emigration and Immigration,*Ethnic Groups,*Gene Frequency,Genetics, Population,History of Medicine, 19th Cent.,History of Medicine, 20th Cent.,Human,Marriage,Probability,Quebec,Support, Non-U.S. Gov't,Support, U.S. Gov't, Non-P.H.S.,Support, U.S. Gov't, P.H.S.},
 pages = {321-333},
 volume = {77},
 id = {71d5a0b0-09f2-3d63-9d32-63ae64def571},
 created = {2017-06-19T13:45:31.763Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:45:31.932Z},
 tags = {04/09/07},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>Historical Article<m:linebreak/>Journal Article</m:note>},
 abstract = {The Saguenay is a region in northeastern Quebec populated in the second half of the 19th century through migration from other parts of Quebec. The present-day population of nearly 300,000 is the result of both immigration and high rates of intrinsic growth. This population has been of interest to geneticists because of the high incidence of certain hereditary diseases, notably spastic ataxia, tyrosinemia, agenesis of the corpus callosum, vitamin D-dependent rickets, and myotonic dystrophy. Parent-offspring migration and isonymy matrices were used to estimate random kinship using the Malecot model for six 10-year time periods from 1852-1911. Comparisons between two estimates of kinship--one from parent-offspring migration matrices (phi) and the other from isonymy (R)--and geographic distance were made using both product-moment and Mantel correlation. Comparisons of within- and between-subdivision kinship were made using nonparametric and Mantel correlation. Within-subdivision kinship from the phi matrix was also compared with kinship estimated from marriage dispensations for endogamous marriages. The estimates of random kinship from the parent-offspring matrices showed a good fit with geography. However, isonymy did not correlate well with geographic distance; and phi and R showed no correlation until the last two time periods, and the diagonal of phi did not correlate with the marriage dispensations. Examination of scatterplots of phi vs. R suggests that nonrandom migration during the process of settlement formation is responsible for the lack of correlation. While movement across space seems to be highly dependent on distance, nonrandom selection of migrants means that between-subdivision estimates of kinship based on migration are not congruent with those obtained by other methods. On the whole, genetic differentiation seems to have been low due to the high levels of movement between subdivisions and immigration. The weak dependence of genetic structure on geographic distances in the present population is demonstrated by mapping the geographic distribution of cases of three recessively inherited diseases.},
 bibtype = {article},
 author = {Gradie, M I and Jorde, L B and Bouchard, G},
 journal = {Am J Phys Anthropol},
 number = {3}
}

@article{bruce_both_1986,
	title = {Both striate cortex and superior colliculus contribute to visual properties of neurons in superior temporal polysensory area of macaque monkey.},
	volume = {55},
	abstract = {Although the tectofugal system projects to the primate cerebral cortex by way of the pulvinar, previous studies have failed to find any physiological evidence that the superior colliculus influences visual activity in the cortex. We studied the relative contributions of the tectofugal and geniculostriate systems to the visual properties of neurons in the superior temporal polysensory area (STP) by comparing the effects of unilateral removal of striate cortex, the superior colliculus, or of both structures. In the intact monkey, STP neurons have large, bilateral receptive fields. Complete unilateral removal of striate cortex did not eliminate visual responses of STP neurons in the contralateral visual hemifield; rather, nearly half the cells still responded to visual stimuli in the hemifield contralateral to the lesion. Thus the visual properties of STP neurons are not completely dependent on the geniculostriate system. Unilateral striate lesions did affect the response properties of STP neurons in three ways. Whereas most STP neurons in the intact monkey respond similarly to stimuli in the two visual hemifields, responses to stimuli in the hemifield contralateral to the striate lesion were usually weaker than responses in the ipsilateral hemifield. Whereas the responses of many STP neurons in the intact monkey were selective for the direction of stimulus motion or for stimulus form, responses in the hemifield contralateral to the striate lesion were not selective for either motion or form. Whereas the median receptive field in the intact monkey extended 80 degrees into the contralateral visual field, the receptive fields of cells with responses in the contralateral field that survived the striate lesions had a median border that extended only 50 degrees into the contralateral visual field. Removal of both striate cortex and the superior colliculus in the same hemisphere abolished the responses of STP neurons to visual stimuli in the hemifield contralateral to the combined lesion. Nearly 80\% of the cells still responded to visual stimuli in the hemifield ipsilateral to the lesion. Unilateral removal of the superior colliculus alone had only small effects on visual responses in STP. Receptive-field size and visual response strength were slightly reduced in the hemifield contralateral to the collicular lesion. As in the intact monkey, selectivity for stimulus motion or form were similar in the two visual hemifields. We conclude that both striate cortex and the superior colliculus contribute to the visual responses of STP neurons. Striate cortex is crucial for the movement and stimulus specificity of neurons in STP.(ABSTRACT TRUNCATED AT 400 WORDS)},
	language = {eng},
	number = {5},
	journal = {J Neurophysiol},
	author = {Bruce, C J and Desimone, R and Gross, C G},
	year = {1986},
	pmid = {3711967},
	note = {Place: UNITED STATES
ISBN: 0022-3077},
	keywords = {Animals, Cerebral Cortex, Evoked Potentials, Visual, Functional Laterality, Macaca fascicularis, Male, Nerve Crush, Neurons, Spatial Behavior, Superior Colliculi, Temporal Lobe, Visual Cortex, Visual Pathways, Visual Perception, research support, u.s. gov't, non-p.h.s., research support, u.s. gov't, p.h.s.},
	pages = {1057--1075},
}

@Article{Georgopoulos1982,
  author   = {A. P. Georgopoulos and J. F. Kalaska and R. Caminiti and J. T. Massey},
  journal  = {J Neurosci},
  title    = {On the relations between the direction of two-dimensional arm movements and cell discharge in primate motor cortex.},
  year     = {1982},
  number   = {11},
  pages    = {1527-37},
  volume   = {2},
  abstract = {The activity of single cells in the motor cortex was recorded while
	monkeys made arm movements in eight directions (at 45 degrees intervals)
	in a two-dimensional apparatus. These movements started from the
	same point and were of the same amplitude. The activity of 606 cells
	related to proximal arm movements was examined in the task; 323 of
	the 606 cells were active in that task and were studied in detail.
	The frequency of discharge of 241 of the 323 cells (74.6\%) varied
	in an orderly fashion with the direction of movement. Discharge was
	most intense with movements in a preferred direction and was reduced
	gradually when movements were made in directions farther and farther
	away from the preferred one. This resulted in a bell-shaped directional
	tuning curve. These relations were observed for cell discharge during
	the reaction time, the movement time, and the period that preceded
	the earliest changes in the electromyographic activity (approximately
	80 msec before movement onset). In about 75\% of the 241 directionally
	tuned cells, the frequency of discharge, D, was a sinusoidal function
	of the direction of movement, theta: D = b0 + b1 sin theta + b2cos
	theta, or, in terms of the preferred direction, theta 0: D = b0 +
	c1cos (theta - theta0), where b0, b1, b2, and c1 are regression coefficients.
	Preferred directions differed for different cells so that the tuning
	curves partially overlapped. The orderly variation of cell discharge
	with the direction of movement and the fact that cells related to
	only one of the eight directions of movement tested were rarely observed
	indicate that movements in a particular direction are not subserved
	by motor cortical cells uniquely related to that movement. It is
	suggested, instead, that a movement trajectory in a desired direction
	might be generated by the cooperation of cells with overlapping tuning
	curves. The nature of this hypothetical population code for movement
	direction remains to be elucidated.},
  keywords = {Animals, Arm, Biomechanics, Electromyography, Macaca mulatta, Male, Motor Cortex, Movement, Neurons, P.H.S., Research Support, U.S. Gov't, 7143039},
}

Website  bibtex   

@article{
 title = {A longevity study of twins in the Mormon genealogy},
 type = {article},
 year = {1981},
 identifiers = {[object Object]},
 keywords = {*Longevity,*Twins,Actuarial Analysis,Age Factors,Christianity,Female,Genealogy and Heraldry,Humans,Infant,Infant Mortality,Male,Pregnancy,Research Support, U.S. Gov't, P.H.S.,Retrospective Studies,Sex Factors},
 pages = {187-200},
 volume = {69 Pt C},
 websites = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=7198241},
 id = {5a9ff0f5-0bfd-3de1-a44a-50318b9f3ab8},
 created = {2017-06-19T13:43:59.126Z},
 file_attached = {false},
 profile_id = {de68dde1-2ff3-3a4e-a214-ef424d0c7646},
 group_id = {b2078731-0913-33b9-8902-a53629a24e83},
 last_modified = {2017-06-19T13:43:59.250Z},
 read = {false},
 starred = {false},
 authored = {false},
 confirmed = {true},
 hidden = {false},
 source_type = {Journal Article},
 notes = {<m:note>0361-7742<m:linebreak/>Journal Article</m:note>},
 bibtype = {article},
 author = {Carmelli, D and Andersen, S},
 journal = {Prog Clin Biol Res}
}