A method for calculating probabilities of fitness consequences for point mutations across the human genome. Gulko, B., Hubisz, M. J., Gronau, I., & Siepel, A. Nature Genetics, 47(3):276–283, March, 2015. Number: 3 Publisher: Nature Publishing Group![A method for calculating probabilities of fitness consequences for point mutations across the human genome [link]](https://bibbase.org/img/filetypes/link.svg "link")
Paper doi abstract bibtex Adam Siepel and colleagues develop a statistical method, fitCons, which combines comparative and functional genomic data to estimate the probability that a point mutation will influence fitness. They generate fitCons scores for three human cell types from ENCODE data sets and demonstrate improved prediction power for cis regulatory elements in comparison to conventional conservation-based scores.
@article{gulko_method_2015,
title = {A method for calculating probabilities of fitness consequences for point mutations across the human genome},
volume = {47},
copyright = {2015 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.},
issn = {1546-1718},
url = {https://www.nature.com/articles/ng.3196},
doi = {10.1038/ng.3196},
abstract = {Adam Siepel and colleagues develop a statistical method, fitCons, which combines comparative and functional genomic data to estimate the probability that a point mutation will influence fitness. They generate fitCons scores for three human cell types from ENCODE data sets and demonstrate improved prediction power for cis regulatory elements in comparison to conventional conservation-based scores.},
language = {en},
number = {3},
urldate = {2020-06-22},
journal = {Nature Genetics},
author = {Gulko, Brad and Hubisz, Melissa J. and Gronau, Ilan and Siepel, Adam},
month = mar,
year = {2015},
note = {Number: 3
Publisher: Nature Publishing Group},
pages = {276--283},
}
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