A global reference for human genetic variation. Auton, A., Abecasis, G. R., Altshuler, D. M., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., Clark, A. G., Donnelly, P., Eichler, E. E., Flicek, P., Gabriel, S. B., Gibbs, R. A., Green, E. D., Hurles, M. E., Knoppers, B. M., Korbel, J. O., Lander, E. S., Lee, C., Lehrach, H., Mardis, E. R., Marth, G. T., McVean, G. A., Nickerson, D. A., Schmidt, J. P., Sherry, S. T., Wang, J., Wilson, R. K., Gibbs, R. A., Boerwinkle, E., Doddapaneni, H., Han, Y., Korchina, V., Kovar, C., Lee, S., Muzny, D., Reid, J. G., Zhu, Y., Wang, J., Chang, Y., Feng, Q., Fang, X., Guo, X., Jian, M., Jiang, H., Jin, X., Lan, T., Li, G., Li, J., Li, Y., Liu, S., Liu, X., Lu, Y., Ma, X., Tang, M., Wang, B., Wang, G., Wu, H., Wu, R., Xu, X., Yin, Y., Zhang, D., Zhang, W., Zhao, J., Zhao, M., Zheng, X., Lander, E. S., Altshuler, D. M., Gabriel, S. B., Gupta, N., Gharani, N., Toji, L. H., Gerry, N. P., Resch, A. M., Flicek, P., Barker, J., Clarke, L., Gil, L., Hunt, S. E., Kelman, G., Kulesha, E., Leinonen, R., McLaren, W. M., Radhakrishnan, R., Roa, A., Smirnov, D., Smith, R. E., Streeter, I., Thormann, A., Toneva, I., Vaughan, B., Zheng-Bradley, X., Bentley, D. R., Grocock, R., Humphray, S., James, T., Kingsbury, Z., Lehrach, H., Sudbrak, R., Albrecht, M. W., Amstislavskiy, V. S., Borodina, T. A., Lienhard, M., Mertes, F., Sultan, M., Timmermann, B., Yaspo, M., Mardis, E. R., Wilson, R. K., Fulton, L., Fulton, R., Sherry, S. T., Ananiev, V., Belaia, Z., Beloslyudtsev, D., Bouk, N., Chen, C., Church, D., Cohen, R., Cook, C., Garner, J., Hefferon, T., Kimelman, M., Liu, C., Lopez, J., Meric, P., O’Sullivan, C., Ostapchuk, Y., Phan, L., Ponomarov, S., Schneider, V., Shekhtman, E., Sirotkin, K., Slotta, D., Zhang, H., McVean, G. A., Durbin, R. M., Balasubramaniam, S., Burton, J., Danecek, P., Keane, T. M., Kolb-Kokocinski, A., McCarthy, S., Stalker, J., Quail, M., Schmidt, J. P., Davies, C. J., Gollub, J., Webster, T., Wong, B., Zhan, Y., Auton, A., Campbell, C. L., Kong, Y., Marcketta, A., Gibbs, R. A., Yu, F., Antunes, L., Bainbridge, M., Muzny, D., Sabo, A., Huang, Z., Wang, J., Coin, L. J. M., Fang, L., Guo, X., Jin, X., Li, G., Li, Q., Li, Y., Li, Z., Lin, H., Liu, B., Luo, R., Shao, H., Xie, Y., Ye, C., Yu, C., Zhang, F., Zheng, H., Zhu, H., Alkan, C., Dal, E., Kahveci, F., Marth, G. T., Garrison, E. P., Kural, D., Lee, W., Fung Leong, W., Stromberg, M., Ward, A. N., Wu, J., Zhang, M., Daly, M. J., DePristo, M. A., Handsaker, R. E., Altshuler, D. M., Banks, E., Bhatia, G., del Angel, G., Gabriel, S. B., Genovese, G., Gupta, N., Li, H., Kashin, S., Lander, E. S., McCarroll, S. A., Nemesh, J. C., Poplin, R. E., Yoon, S. C., Lihm, J., Makarov, V., Clark, A. G., Gottipati, S., Keinan, A., Rodriguez-Flores, J. L., Korbel, J. O., Rausch, T., Fritz, M. H., Stütz, A. M., Flicek, P., Beal, K., Clarke, L., Datta, A., Herrero, J., McLaren, W. M., Ritchie, G. R. S., Smith, R. E., Zerbino, D., Zheng-Bradley, X., Sabeti, P. C., Shlyakhter, I., Schaffner, S. F., Vitti, J., Cooper, D. N., Ball, E. V., Stenson, P. D., Bentley, D. R., Barnes, B., Bauer, M., Keira Cheetham, R., Cox, A., Eberle, M., Humphray, S., Kahn, S., Murray, L., Peden, J., Shaw, R., Kenny, E. E., Batzer, M. A., Konkel, M. K., Walker, J. A., MacArthur, D. G., Lek, M., Sudbrak, R., Amstislavskiy, V. S., Herwig, R., Mardis, E. R., Ding, L., Koboldt, D. C., Larson, D., Ye, K., Gravel, S., The 1000 Genomes Project Consortium, Corresponding authors, Steering committee, Production group, Baylor College of Medicine, BGI-Shenzhen, Broad Institute of MIT, Harvard, Coriell Institute for Medical Research, European Molecular Biology Laboratory, E. B. I., Illumina, Max Planck Institute for Molecular Genetics, McDonnell Genome Institute at Washington University, US National Institutes of Health, University of Oxford, Wellcome Trust Sanger Institute, Analysis group, Affymetrix, Albert Einstein College of Medicine, Bilkent University, Boston College, Cold Spring Harbor Laboratory, Cornell University, European Molecular Biology Laboratory, Harvard University, Human Gene Mutation Database, Icahn School of Medicine at Mount Sinai, Louisiana State University, Massachusetts General Hospital, McGill University, & National Eye Institute, N. Nature, 526(7571):68–74, October, 2015. Publisher: Nature Publishing Group
A global reference for human genetic variation [link]Paper  doi  abstract   bibtex   
The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping. We characterized a broad spectrum of genetic variation, in total over 88 million variants (84.7 million single nucleotide polymorphisms (SNPs), 3.6 million short insertions/deletions (indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes \textgreater99% of SNP variants with a frequency of \textgreater1% for a variety of ancestries. We describe the distribution of genetic variation across the global sample, and discuss the implications for common disease studies.
@article{auton_global_2015,
	title = {A global reference for human genetic variation},
	volume = {526},
	copyright = {2015 The Author(s)},
	issn = {1476-4687},
	url = {https://www.nature.com/articles/nature15393},
	doi = {10.1038/nature15393},
	abstract = {The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping. We characterized a broad spectrum of genetic variation, in total over 88 million variants (84.7 million single nucleotide polymorphisms (SNPs), 3.6 million short insertions/deletions (indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes {\textgreater}99\% of SNP variants with a frequency of {\textgreater}1\% for a variety of ancestries. We describe the distribution of genetic variation across the global sample, and discuss the implications for common disease studies.},
	language = {en},
	number = {7571},
	urldate = {2024-12-17},
	journal = {Nature},
	author = {Auton, Adam and Abecasis, Gonçalo R. and Altshuler, David M. and Durbin, Richard M. and Abecasis, Gonçalo R. and Bentley, David R. and Chakravarti, Aravinda and Clark, Andrew G. and Donnelly, Peter and Eichler, Evan E. and Flicek, Paul and Gabriel, Stacey B. and Gibbs, Richard A. and Green, Eric D. and Hurles, Matthew E. and Knoppers, Bartha M. and Korbel, Jan O. and Lander, Eric S. and Lee, Charles and Lehrach, Hans and Mardis, Elaine R. and Marth, Gabor T. and McVean, Gil A. and Nickerson, Deborah A. and Schmidt, Jeanette P. and Sherry, Stephen T. and Wang, Jun and Wilson, Richard K. and Gibbs, Richard A. and Boerwinkle, Eric and Doddapaneni, Harsha and Han, Yi and Korchina, Viktoriya and Kovar, Christie and Lee, Sandra and Muzny, Donna and Reid, Jeffrey G. and Zhu, Yiming and Wang, Jun and Chang, Yuqi and Feng, Qiang and Fang, Xiaodong and Guo, Xiaosen and Jian, Min and Jiang, Hui and Jin, Xin and Lan, Tianming and Li, Guoqing and Li, Jingxiang and Li, Yingrui and Liu, Shengmao and Liu, Xiao and Lu, Yao and Ma, Xuedi and Tang, Meifang and Wang, Bo and Wang, Guangbiao and Wu, Honglong and Wu, Renhua and Xu, Xun and Yin, Ye and Zhang, Dandan and Zhang, Wenwei and Zhao, Jiao and Zhao, Meiru and Zheng, Xiaole and Lander, Eric S. and Altshuler, David M. and Gabriel, Stacey B. and Gupta, Namrata and Gharani, Neda and Toji, Lorraine H. and Gerry, Norman P. and Resch, Alissa M. and Flicek, Paul and Barker, Jonathan and Clarke, Laura and Gil, Laurent and Hunt, Sarah E. and Kelman, Gavin and Kulesha, Eugene and Leinonen, Rasko and McLaren, William M. and Radhakrishnan, Rajesh and Roa, Asier and Smirnov, Dmitriy and Smith, Richard E. and Streeter, Ian and Thormann, Anja and Toneva, Iliana and Vaughan, Brendan and Zheng-Bradley, Xiangqun and Bentley, David R. and Grocock, Russell and Humphray, Sean and James, Terena and Kingsbury, Zoya and Lehrach, Hans and Sudbrak, Ralf and Albrecht, Marcus W. and Amstislavskiy, Vyacheslav S. and Borodina, Tatiana A. and Lienhard, Matthias and Mertes, Florian and Sultan, Marc and Timmermann, Bernd and Yaspo, Marie-Laure and Mardis, Elaine R. and Wilson, Richard K. and Fulton, Lucinda and Fulton, Robert and Sherry, Stephen T. and Ananiev, Victor and Belaia, Zinaida and Beloslyudtsev, Dimitriy and Bouk, Nathan and Chen, Chao and Church, Deanna and Cohen, Robert and Cook, Charles and Garner, John and Hefferon, Timothy and Kimelman, Mikhail and Liu, Chunlei and Lopez, John and Meric, Peter and O’Sullivan, Chris and Ostapchuk, Yuri and Phan, Lon and Ponomarov, Sergiy and Schneider, Valerie and Shekhtman, Eugene and Sirotkin, Karl and Slotta, Douglas and Zhang, Hua and McVean, Gil A. and Durbin, Richard M. and Balasubramaniam, Senduran and Burton, John and Danecek, Petr and Keane, Thomas M. and Kolb-Kokocinski, Anja and McCarthy, Shane and Stalker, James and Quail, Michael and Schmidt, Jeanette P. and Davies, Christopher J. and Gollub, Jeremy and Webster, Teresa and Wong, Brant and Zhan, Yiping and Auton, Adam and Campbell, Christopher L. and Kong, Yu and Marcketta, Anthony and Gibbs, Richard A. and Yu, Fuli and Antunes, Lilian and Bainbridge, Matthew and Muzny, Donna and Sabo, Aniko and Huang, Zhuoyi and Wang, Jun and Coin, Lachlan J. M. and Fang, Lin and Guo, Xiaosen and Jin, Xin and Li, Guoqing and Li, Qibin and Li, Yingrui and Li, Zhenyu and Lin, Haoxiang and Liu, Binghang and Luo, Ruibang and Shao, Haojing and Xie, Yinlong and Ye, Chen and Yu, Chang and Zhang, Fan and Zheng, Hancheng and Zhu, Hongmei and Alkan, Can and Dal, Elif and Kahveci, Fatma and Marth, Gabor T. and Garrison, Erik P. and Kural, Deniz and Lee, Wan-Ping and Fung Leong, Wen and Stromberg, Michael and Ward, Alistair N. and Wu, Jiantao and Zhang, Mengyao and Daly, Mark J. and DePristo, Mark A. and Handsaker, Robert E. and Altshuler, David M. and Banks, Eric and Bhatia, Gaurav and del Angel, Guillermo and Gabriel, Stacey B. and Genovese, Giulio and Gupta, Namrata and Li, Heng and Kashin, Seva and Lander, Eric S. and McCarroll, Steven A. and Nemesh, James C. and Poplin, Ryan E. and Yoon, Seungtai C. and Lihm, Jayon and Makarov, Vladimir and Clark, Andrew G. and Gottipati, Srikanth and Keinan, Alon and Rodriguez-Flores, Juan L. and Korbel, Jan O. and Rausch, Tobias and Fritz, Markus H. and Stütz, Adrian M. and Flicek, Paul and Beal, Kathryn and Clarke, Laura and Datta, Avik and Herrero, Javier and McLaren, William M. and Ritchie, Graham R. S. and Smith, Richard E. and Zerbino, Daniel and Zheng-Bradley, Xiangqun and Sabeti, Pardis C. and Shlyakhter, Ilya and Schaffner, Stephen F. and Vitti, Joseph and Cooper, David N. and Ball, Edward V. and Stenson, Peter D. and Bentley, David R. and Barnes, Bret and Bauer, Markus and Keira Cheetham, R. and Cox, Anthony and Eberle, Michael and Humphray, Sean and Kahn, Scott and Murray, Lisa and Peden, John and Shaw, Richard and Kenny, Eimear E. and Batzer, Mark A. and Konkel, Miriam K. and Walker, Jerilyn A. and MacArthur, Daniel G. and Lek, Monkol and Sudbrak, Ralf and Amstislavskiy, Vyacheslav S. and Herwig, Ralf and Mardis, Elaine R. and Ding, Li and Koboldt, Daniel C. and Larson, David and Ye, Kai and Gravel, Simon and {The 1000 Genomes Project Consortium} and {Corresponding authors} and {Steering committee} and {Production group} and {Baylor College of Medicine} and {BGI-Shenzhen} and {Broad Institute of MIT and Harvard} and {Coriell Institute for Medical Research} and European Molecular Biology Laboratory, European Bioinformatics Institute and {Illumina} and {Max Planck Institute for Molecular Genetics} and {McDonnell Genome Institute at Washington University} and {US National Institutes of Health} and {University of Oxford} and {Wellcome Trust Sanger Institute} and {Analysis group} and {Affymetrix} and {Albert Einstein College of Medicine} and {Bilkent University} and {Boston College} and {Cold Spring Harbor Laboratory} and {Cornell University} and {European Molecular Biology Laboratory} and {Harvard University} and {Human Gene Mutation Database} and {Icahn School of Medicine at Mount Sinai} and {Louisiana State University} and {Massachusetts General Hospital} and {McGill University} and National Eye Institute, NIH},
	month = oct,
	year = {2015},
	note = {Publisher: Nature Publishing Group},
	keywords = {Genetic variation, Genomics},
	pages = {68--74},
}
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