A global reference for human genetic variation

作者：Taras K. Oleksyk, Adam Gonçalo R. David M. Richard M. Gonçalo R. David R. Auton Abecasis Altshuler Durbin Abecasis Bentley C, Adam Gonçalo R. Auton Abecasis, Adam Auton, G. Abecasis, David M. Richard M. Gonçalo R. David R. Aravinda Andrew Altshuler Durbin Abecasis Bentley Chakravarti Clar, D. Altshuler, R. Durbin, D. Bentley, A. Chakravarti, A. Clark, P. Donnelly, E. Eichler, Paul Flicek, S. Gabriel, R. Gibbs, E. Green, M. Hurles, B. Knoppers, J. Korbel, E. Lander, Charles Lee, H. Lehrach, E. Mardis, Gabor T. Marth, G. McVean, D. Nickerson, Jeanette Schmidt, S. Sherry, Jun Wang, R. Wilson, Richard A. Eric Harsha Yi Viktoriya Christie Sandra Donna Gibbs Boerwinkle Doddapaneni Han Korchina Kovar Le, Richard A. Eric Harsha Yi Viktoriya Christie Sandra Donna Gibbs Boerwinkle Doddapaneni Han Korchina Kovar Le, E. Boerwinkle, H. Doddapaneni, Yi Han, V. Korchina, C. Kovar, Sandra Lee, Donna M Muzny, J. Reid, Yiming Zhu, Jun Yuqi Qiang Xiaodong Xiaosen Min Hui Xin Tianming G Wang Chang Feng Fang Guo Jian Jiang Jin Lan Li Li, Yuqi Chang, Q. Feng, Xiaodong Fang, Xiaosen Guo, Min Jian, Hui Jiang, Xin Jin, Tianming Lan, Guoqing Li, Jingxiang Li, Yingrui Li, S. Liu, Xiao Liu, Yao Lu, Xuedi Ma, M. Tang, Bo Wang, Guangbiao Wang, Honglong Wu, Renhua Wu, Xun Xu, Ye Yin, Dandan Zhang, Wenwei Zhang, Jiao Zhao, Meiru Zhao, Xiaole Zheng, Eric S. David M. Stacey B. Namrata Lander Altshuler Gabriel Gupta, Namrata Gupta, Neda Lorraine H. Norman P. Alissa M. Gharani Toji Gerry Resch, N. Gharani, L. Toji, N. Gerry, Alissa M. Resch, Paul Jonathan Laura Laurent Sarah E. Gavin Eugene Rasko Flicek Barker Clarke Gil Hunt Kelman Kulesha Leino, Jonathan A. Barker, Laura Clarke, Laurent Gil, S. Hunt, G. Kelman, Eugene Kulesha, Rasko Leinonen, William M. McLaren, Rajesh Radhakrishnan, Asier Roa, Dmitriy Smirnov, Richard E. Smith, Ian Streeter, A. Thormann, I. Toneva, Brendan W. Vaughan, Xiangqun Zheng-Bradley, David R. Russell Sean Terena Zoya Bentley Grocock Humphray James Kingsbury, R. Grocock, S. Humphray, Terena James, Z. Kingsbury, Hans Ralf Marcus W. Vyacheslav S. Tatiana A. Matthias F Lehrach Sudbrak Albrecht Amstislavskiy Borodina Li, R. Sudbrak, Marcus W. Albrecht, V. Amstislavskiy, T. Borodina, M. Lienhard, F. Mertes, M. Sultan, Bernd Timmermann, M. Yaspo, Elaine R. Richard K. Lucinda Robert Mardis Wilson Fulton Fulton, L. Fulton, Robert S. Fulton, Stephen T. Victor Zinaida Dimitriy Nathan Chao Deanna Robe Sherry Ananiev Belaia Beloslyudtsev Bouk Chen Chur, Victor Ananiev, Zinaida Belaia, Dimitriy Beloslyudtsev, Nathan Bouk, Chao Chen, D. Church, Robert Cohen, Charles Cook, John Garner, T. Hefferon, M. Kimelman, Chunlei Liu, John Lopez, Peter A. Meric, Christa O'Sullivan, Yuri Ostapchuk, Lon Phan, S. Ponomarov, Valerie A Schneider, Eugene M. Shekhtman, K. Sirotkin, D. Slotta, Hua Zhang, Richard M. Senduran John Petr Thomas M. Anja Shane James M Durbin Balasubramaniam Burton Danecek Keane Kolb-K, Senduran Balasubramaniam, J. Burton, P. Danecek, Thomas M. Keane, Anja Kolb-Kokocinski, Shane A. McCarthy, J. Stalker, Michael A. Quail, Jeanette P. Christopher J. Jeremy Teresa Brant Yiping Adam Schmidt Davies Gollub Webster Wong Zhan Auton Camp, Jeanette P. Christopher J. Jeremy Teresa Brant Yiping Schmidt Davies Gollub Webster Wong Zhan, C. J. Davies, J. Gollub, Teresa A. Webster, Brant Wong, Yiping Zhan, Adam Christopher L. Yu Anthony Auton Campbell Kong Marcketta, Adam Auton, Christopher L. Campbell, Yu Kong, Anthony Marcketta, Richard A. Fuli Lilian Matthew Donna Aniko Zhuoyi Gibbs Yu Antunes Bainbridge Muzny Sabo Huang, F. Yu, L. Antunes, M. Bainbridge, A. Sabo, Zhuoyi Huang, Jun Lachlan J. M. Lin Xiaosen Xin Guoqing Qibin Yingru Wang Coin Fang Guo Jin Li Li Li Li Lin Liu Luo Sha, L. Coin, L. Fang, Qibin Li, Zhenyu Li, Haoxiang Lin, Binghang Liu, Ruibang Luo, Haojing Shao, Yinlong Xie, C. Ye, Chang Yu, Fan Zhang, Hancheng Zheng, Hongmei Zhu, Can Elif Fatma Alkan Dal Kahveci, Can Alkan, E. Dal, Fatma Kahveci, Gabor T. Erik P. Deniz Wan-Ping Wen Michael Alistair N. Marth Garrison Kural Lee Fung Leong Stromberg Ward, Erik P. Garrison, Deniz Kural, Wan-Ping Lee, Wen Fung Leong, Michael P. Stromberg, Alistair N. Ward, Jiantao Wu, Mengyao Zhang, Mark J. Mark A. Robert E. David M. Eric Gaurav Guillerm Daly DePristo Handsaker Altshuler Banks Bhatia del, Mark J. Daly, M. DePristo, R. Handsaker, Eric Banks, G. Bhatia, G. Del Angel, G. Genovese, Heng Li, Seva Kashin, Steven A. McCarroll, J. Nemesh, R. Poplin, Seungtai C. Jayon Vladimir Yoon Lihm Makarov, Seungtai Yoon, J. Lihm, Vladimir Makarov, Andrew G. Srikanth Alon Juan L. Clark Gottipati Keinan Rodriguez-Flores, S. Gottipati, A. Keinan, Juan L. Rodriguez-Flores, Jan O. Tobias Markus H. Adrian M. Korbel Rausch Fritz Stütz, Tobias Rausch, M. H. Fritz, A. Stütz, Paul Kathryn Laura Avik Javier William M. Graham R. S. Flicek Beal Clarke Datta Herrero McLaren Ritchie S, Kathryn M Beal, Avik Datta, Javier Herrero, G. Ritchie, D. Zerbino, Pardis C. Ilya Stephen F. Joseph Sabeti Shlyakhter Schaffner Vitti, P. Sabeti, I. Shlyakhter, S. Schaffner, Joseph J. Vitti, David N. Edward V. Peter D. Cooper Ball Stenson, David N. Cooper, E. Ball, P. Stenson, David R. Bret Markus R. Anthony Michael Sean Scott Lisa Bentley Barnes Bauer Keira Cheetham Cox Eberle Hum, B. Barnes, Markus Bauer, R. Keira Cheetham, A. Cox, M. Eberle, Scott D. Kahn, L. Murray, J. Peden, Richard Shaw, E. Kenny, Mark A. Miriam K. Jerilyn A. Batzer Konkel Walker, M. Batzer, Miriam K. Konkel, Jerilyn A. Walker, Daniel G. Monkol MacArthur Lek, D. MacArthur, M. Lek, Ralf Vyacheslav S. Ralf Sudbrak Amstislavskiy Herwig, Ralf Herwig, Elaine R. Li Daniel C. David Kai Mardis Ding Koboldt Larson Ye, L. Ding, D. Koboldt, D. Larson, Kai Ye, S. Gravel, Anand Emily Swaroop Chew, Anand Swaroop, Emily Y. Chew, Tuuli Yaniv Melissa Thomas Lappalainen Erlich Gymrek Frederick Willems, Tuuli Lappalainen, Yaniv Erlich, M. Gymrek, Thomas Frederick Willems, J. Simpson, M. Shriver, J. Rosenfeld, Carlos D. Stephen B. Francisco M. Jake K. Andrew W. Maria Bustamante Montgomery De La Vega Byrnes Carroll De, C. Bustamante, Stephen B. Montgomery, F. M. De La Vega, Jake K. Byrnes, Andrew Carroll, Marianne K. DeGorter, P. Lacroute, B. K. Maples, Alicia R. Martin, A. Moreno-Estrada, S. Shringarpure, Fouad Zakharia, Eran Yael Halperin Baran, Eran Halperin, Yael Baran, Charles Eliza Jaeho Ankit Dariusz Kamen Mallory Chengsheng Lee Cerveira Hwang Malhotra Plewczynski Radew Roma, Eliza Cerveira, Jaeho Hwang, A. Malhotra, Dariusz M Plewczynski, Kamen Radew, Mallory Romanovitch, Chengsheng Zhang, Fiona C. Hyland, David W. Alexis Nils Tyler Ahmet A. Shripad A. Kevin Craig Christoforides Homer Izatt Kurdoglu Sinari S, D. Craig, Alexis Christoforides, Nils Homer, Tyler Izatt, Ahmet A. Kurdoglu, Shripad A. Sinari, Kevin Squire, Stephen T. Chunlin Sherry Xiao, Chunlin Xiao, Jonathan Danny Madhusudan Amina Kenny Sebat Antaki Gujral Noor Ye, J. Sebat, D. Antaki, Madhusudan Gujral, Amina Noor, Kenny Q. Ye, Esteban G. Ryan D. Christopher R. Burchard Hernandez Gignoux, E. Burchard, Ryan D. Hernandez, Christopher R. Gignoux, David Sol J. W. Haussler Katzman James Kent, David Haussler, Sol Katzman, W. James Kent, Bryan N. Howie, A. Ruiz-Linares, Emmanouil T Dermitzakis, S. Devine, Gonçalo R. Hyun Jeffrey M. Tom Sean Wei Sarah Lars Christi Abecasis Min Kang Kidd Blackwell Caron Chen Emery, G. Abecasis, Hyun Min Kang, J. Kidd, T. Blackwell, Sean Caron, Wei Chen, Sarah B. Emery, L. Fritsche, C. Fuchsberger, Goo Jun, Bingshan Li, R. Lyons, Christopher Scheller, C. Sidore, Shiya Song, Elzbieta Sliwerska, D. Taliun, Adrian Tan, Ryan Welch, Mary Kate Wing, Xiaowei Zhan, Philip Alan Awadalla Hodgkinson, P. Awadalla, Alan Hodgkinson, Yun Li, Xinghua Andrew Shi Quitadamo, Xinghua Shi, Andrew Quitadamo, Gerton Gil A. Jonathan L. Simon Claire Olivier Anjali War Lunter McVean Marchini Myers Churchhouse Delaneau, G. Lunter, J. Marchini, S. Myers, C. Churchhouse, Olivier Delaneau, Anjali Gupta-Hinch, Warren W. Kretzschmar, Z. Iqbal, I. Mathieson, A. Menelaou, A. Rimmer, Dionysia K. Xifara, Taras K. Oleksyk, Yunxin Xiaoming Momiao Fu Liu Xiong, Yunxin Fu, Xiaoming Liu, Momiao Xiong, Lynn David Jinchuan Jorde Witherspoon Xing, L. Jorde, D. Witherspoon, Jinchuan Xing, Evan E. Brian L. Sharon R. Fereydoun Peter H. Eichler Browning Browning Hormozdiari Sudmant, B. Browning, Sharon R. Browning, F. Hormozdiari, Peter Sudmant, Ekta Khurana, Richard M. Matthew E. Chris Cornelis A. Qasim Senduran Yua Durbin Hurles Tyler-Smith Albers Ayub Balasubraman, C. Tyler-Smith, C. A. Albers, Q. Ayub, Yuan Chen, V. Colonna, L. Jostins, Klaudia Walter, Yali Xue, Mark B. Alexej Suganthi Jieming Declan Yao Arif O. Mike Gerstein Abyzov Balasubramanian Chen Clarke Fu Har, Mark B. Gerstein, A. Abyzov, S. Balasubramanian, Jieming Chen, Declan Clarke, Yao Fu, A. Harmanci, Mike Jin, Donghoon Lee, Jeremy Liu, Xinmeng Jasmine Mu, Jing Zhang, Yan Zhang, Yingrui Ruibang Hongmei Can Elif Fatma Gabor T. Erik P. De Li Luo Zhu Alkan Dal Kahveci Marth Garrison Kural, Yingrui Ruibang Hongmei Li Luo Zhu, Gabor T. Erik P. Deniz Wan-Ping Alistair N. Jiantao Meng Marth Garrison Kural Lee Ward Wu Zhang, Jiantao Wu, Mengyao Zhang, Steven A. Robert E. David M. Eric Guillermo Giulio Chris McCarroll Handsaker Altshuler Banks del Angel Geno, C. Hartl, Khalid Shakir, Jeremiah D. Degenhardt, Jan O. Markus H. Sascha Benjamin Tobias Adrian M. Korbel Fritz Meiers Raeder Rausch Stütz, Sascha Meiers, B. Raeder, Paul Francesco Laura Richard E. Oliver Xiangqun Flicek Paolo Casale Clarke Smith Stegle Zheng-Brad, Francesco Paolo Casale, O. Stegle, David R. Bret R. Michael Sean Scott Lisa Richard Bentley Barnes Keira Cheetham Eberle Humphray Kahn, Eric-Wubbo Lameijer, Li Ira Kai Ding Hall Ye, I. Hall, Charles Eliza Ankit Jaeho Dariusz Kamen Mallory Chengsheng Lee Cerveira Malhotra Hwang Plewczynski Radew Roma, David W. Nils Craig Homer, Deanna Chunlin Church Xiao, Jonathan Danny Vineet Jacob Kenny Sebat Antaki Bafna Michaelson Ye, V. Bafna, J. Michaelson, Scott E. Eugene J. Devine Gardner, Eugene J. Gardner, Gonçalo R. Jeffrey M. Ryan E. Gargi Sarah Goo Abecasis Kidd Mills Dayama Emery Jun, R. E. Mills, Gargi Dayama, Gerton Gil A. Lunter McVean, Ken Xian Zechen Tenghui Chen Fan Chong Chen, Ken Chen, Xian Fan, Zechen Chong, Tenghui Chen, David Jinchuan Witherspoon Xing, Evan E. Mark J. Fereydoun John Maika Bradley J. Peter H Eichler Chaisson Hormozdiari Huddleston Malig Nels, Mark J. P. Chaisson, J. Huddleston, Maika Malig, Bradley J. Nelson, N. Parrish, Matthew E. Ben Sarah J. Zemin Klaudia Yujun Hurles Blackburne Lindsay Ning Walter Zhang, Benjamin P. Blackburne, S. Lindsay, Zemin Ning, Yujun Zhang, Mark B. Alexej Jieming Declan Hugo Xinmeng Cristina Jin Gerstein Abyzov Chen Clarke Lam Jasmine Mu Sisu Zh, Hugo Y. K. Lam, Cristina Sisu, Richard A. Fuli Matthew Danny Uday S. Christie James Donna Gibbs Yu Bainbridge Challis Evani Kovar Lu Muzny N, Richard A. Fuli Matthew Danny Uday S. Christie James Donna Gibbs Yu Bainbridge Challis Evani Kovar Lu Muzny N, Danny Challis, Uday S. Evani, James T. Lu, U. Nagaswamy, Jin Yu, Xiaosen Wangshen Yingrui Renhua Guo Li Li Wu, Wangsheng Li, Gabor T. Erik P. Wen Alistair N. Marth Garrison Fung Leong Ward, Wen Fung Leong, Guillermo Mark A. Stacey B. Namrata Chris Ryan E. del Angel DePristo Gabriel Gupta Hartl Poplin, Andrew G. Juan L. Clark Rodriguez-Flores, Paul Laura Richard E. Xiangqun Flicek Clarke Smith Zheng-Bradley, Elaine R. Robert Daniel C. Mardis Fulton Koboldt, C. Bustamante, David W. Alexis Nils Tyler Craig Christoforides Homer Izatt, Gonçalo R. Hyun Abecasis Min Kang, Mark B. Suganthi Lukas Gerstein Balasubramanian Habegger, L. Habegger, Haiyuan Paul Laura Fiona Ian Daniel Xiangqun Kasper Jakob Yu Flicek Clarke Cunningham Dunham Zerbino Zheng-B, Haiyuan Yu, Paul Laura Fiona Ian Daniel Xiangqun Flicek Clarke Cunningham Dunham Zerbino Zheng-Brad, Fiona Cunningham, Ian Dunham, Kasper Jakob Heiko Lage Berg Jespersen Horn, K. Lage, Jakob Berg Jespersen, Heiko Horn, Stephen B. Marianne K. Montgomery DeGorter, Chris Yuan Vincenza Yali Tyler-Smith Chen Colonna Xue, Mark B. Suganthi Yao Donghoon Gerstein Balasubramanian Fu Kim, Donghoon Kim, Adam Anthony Rob Apurva Melissa A. Erik P. Robert E. Se Auton Marcketta Desalle Narechania Wilson Sayres G, Adam Anthony Auton Marcketta, Rob Apurva Desalle Narechania, Rob DeSalle, A. Narechania, Melissa A. Wilson Sayres, Robert E. Seva Steven A. Handsaker Kashin McCarroll, Paul Laura Xiangqun Flicek Clarke Zheng-Bradley, Yaniv Melissa Thomas Erlich Gymrek Frederick Willems, Carlos D. Fernando L. G. Peter A. Bustamante Mendez David Poznik Underhill, F. Mendez, G. David Poznik, P. Underhill, Charles Eliza Ankit Mallory Chengsheng Lee Cerveira Malhotra Romanovitch Zhang · 发表于：Nature · 年份：2015 · DOI：10.1038/nature15393 · 被引用次数：17041 · 研究领域：Biology、Medicine

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 >99% of SNP variants with a frequency of >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.