A global reference for human genetic variation

authors, Corresponding; Auton, Adam; R. Abecasis, Gonçalo; M. Altshuler, David; Durbin, Richard; R. Abecasis, Gonçalo; R. Bentley, David; Chakravarti, Aravinda; G. Clark, Andrew; Donnelly, Peter; E. Eichler, Evan; Flicek, Paul; B. Gabriel, Stacey; A. Gibbs, Richard; D. Green, Eric; E. Hurles, Matthew; M. Knoppers, Bartha; O. Korbel, Jan; S. Lander, Eric; Lee, Charles; Lehrach, Hans; R. Mardis, Elaine; Marth, Gábor; A. McVean, Gil; A. Nickerson, Deborah; P. Schmidt, Jeanette; T. Sherry, Stephen; Wang, Jun; K. Wilson, Richard; group, Production; A. Gibbs, Richard; Boerwinkle, Eric; Doddapaneni, HarshaVardhan; Han, Yi; Korchina, Viktoriya; Kovar, Christie; Lee, Sandra; M. Muzny, Donna; G. Reid, Jeffrey; Zhu, Yiming; , BGI-Shenzhen; Wang, Jun; Chang, Yuqi; Feng, Qiang; Fang, Xiaodong; Guo, Xiaosen; Jian, Min; Jiang, Hui; Jin, Xin; Lan, Tianming; Li, Guoqing; Li, Jingxiang; Li, Yingrui; Liu, Shengmao; Liu, Xiao; Lu, Yao; Ma, Xuedi; Tang, Meifang; Wang, Bo; Wang, Guangbiao; Wu, Honglong; Wu, Renhua; Xu, Xun; Yin, Ye; Zhang, Dandan; Zhang, Wenwei; Zhao, Jiao; Zhao, Meiru; Zheng, Xiaole; S. Lander, Eric; M. Altshuler, David; Gabriel, Stacey; Gupta, Namrata; Gharani, Neda; H. Toji, Lorraine; P. Gerry, Norman; Resch, Alissa; Flicek, Paul; Barker, Jonathan; Clarke, Laura; Gil, Laurent; Hunt, Sarah; Kelman, Gavin; Kulesha, Eugene; Leinonen, Rasko; McLaren, William; Radhakrishnan, Rajesh; Roa, Asier; Smirnov, Dmitriy; E. Smith, Richard; Streeter, Ian; Thormann, Anja; Toneva, Iliana; Vaughan, Brendan; Zheng-Bradley, Xiangqun; , Illumina; R. Bentley, David; Grocock, Russell; Humphray, Sean; James, Terena; Kingsbury, Zoya; Lehrach, Hans; Sudbrak, Ralf; W. Albrecht, Marcus; S. Amstislavskiy, Vyacheslav; Borodina, Tatiana; Lienhard, Matthias; Mertes, Florian; Sultan, Marc; Timmermann, Bernd; Yaspo, Marie‐Laure; R. Mardis, Elaine; K. Wilson, Richard; Fulton, Lucinda; S. Fulton, Robert; T. Sherry, Stephen; Ananiev, Victor; Belaia, Zinaida; Beloslyudtsev, Dimitriy; Bouk, Nathan; Chen, Chao; M. Church, Deanna; Cohen, Robert; Cook, Charles; Garner, John; Hefferon, Timothy; Kimelman, Mikhail; Liu, Chunlei; Lopez, John; Meric, Peter; O’Sullivan, Chris; Ostapchuk, Yuri; Phan, Lon; Ponomarov, Sergiy; Schneider, Valérie; Shekhtman, Eugene; Sirotkin, Karl; J. Slotta, Douglas; Zhang, Hua; A. McVean, Gil; Durbin, Richard; Balasubramaniam, Senduran; H. Burton, John; Danecek, Petr; Keane, Thomas; Kolb‐Kokocinski, Anja; McCarthy, Shane; Stalker, James; A. Quail, Michael; group, Analysis; , Affymetrix; P. Schmidt, Jeanette; J. Davies, Christopher; Gollub, Jeremy; Webster, Teresa; Wong, Brant; Zhan, Yiping; Auton, Adam; Campbell, Christopher; Kong, Yu; Marcketta, Anthony; A. Gibbs, Richard; Yu, Fuli; Antunes, Lilian; N. Bainbridge, Matthew; Muzny, Donna; Sabo, Aniko; Huang, Zhuoyi; , BGI-Shenzhen; Wang, Jun; Coin, Lachlan; Fang, Lin; Guo, Xiaosen; Jin, Xin; Li, Guoqing; Li, Qibin; Li, Yingrui; Li, Zhenyu; Lin, Haoxiang; Liu, Binghang; Luo, Ruibang; Shao, Haojing; Xie, Yinlong; Ye, Chen; Yu, Chang; Zhang, Fan; Zheng, Hancheng; Zhu, Hongmei; Alkan, Can; Dal, Elif; Kahveci, Fatma; T. Marth, Gabor; Garrison, Erik; Kural, Deniz; Lee, Wan-Ping; Fung Leong, Wen; P. Strömberg, Michael; Ward, Alistair; Wu, Jiantao; Zhang, Mengyao; J. Daly, Mark; A. DePristo, Mark; E. Handsaker, Robert; M. Altshuler, David; Banks, Eric; Bhatia, Gaurav; del Angel, Guillermo; B. Gabriel, Stacey; Genovese, Giulio; Gupta, Namrata; Li, Heng; Kashin, Seva; S. Lander, Eric; A. McCarroll, Steven; Nemesh, James; Poplin, Ryan; Yoon, Seungtai; Lihm, Jayon; Makarov, Vladimir; G. Clark, Andrew; Gottipati, Srikanth; Keinan, Alon; L. Rodríguez-Flores, Juan; O. Korbel, Jan; Rausch, Tobias; H. Fritz, Markus; M. Stütz, Adrian; Flicek, Paul; Beal, Kathryn; Clarke, Laura; Datta, Avik; Herrero, Javier; McLaren, William; R. S. Ritchie, Graham; E. Smith, Richard; R. Zerbino, Daniel; Zheng-Bradley, Xiangqun; C. Sabeti, Pardis; Shlyakhter, Ilya; F. Schaffner, S.; J. Vitti, Joseph; Gene Mutation Database, Human; Cooper, D.N.; V. Ball, Edward; D. Stenson, Peter; , Illumina; R. Bentley, David; Barnes, Bret; Bauer, Markus; Keira Cheetham, R.; J. Cox, Anthony; Eberle, Michael; Humphray, Sean; Kahn, Scott; Murray, Lisa; F. Peden, John; J. Shaw, Richard; E. Kenny, Eimear; A. Batzer, Mark; K. Konkel, Miriam; A. Walker, Jerilyn; G. MacArthur, Daniel; Lek, Monkol; Sudbrak, Ralf; S. Amstislavskiy, Vyacheslav; Herwig, Ralf; R. Mardis, Elaine; Ding, Li; C. Koboldt, Daniel; E. Larson, David; Ye, Kai; Gravel, Simon; Swaroop, Anand; Y. Chew, Emily; Lappalainen, Tuuli; Erlich, Yaniv; Gymrek, Melissa; Frederick Willems, Thomas; T. Simpson, Jared; D. Shriver, Mark; Rosenfeld, Jeffrey; D. Bustamante, Carlos; B. Montgomery, Stephen; M. De La Vega, Francisco; Byrnes, Jake; Carroll, Andrew; K. DeGorter, Marianne; Lacroute, Phil; K. Maples, Brian; R. Martin, Alicia; Moreno-Estrada, Andres; Shringarpure, Suyash; Zakharia, Fouad; Halperin, Eran; Baran, Yael; Lee, Charles; Cerveira, Eliza; Hwang, Jaeho; Malhotra, Ankit; Plewczyński, Dariusz; Radew, Kamen; Romanovitch, Mallory; Zhang, Chengsheng; Fisher Scientific, Thermo; Hyland, Fiona; W. Craig, David; Christoforides, Alexis; Homer, Nils; Izatt, Tyler; Kurdoglu, Ahmet; Sinari, Shripad; Squire, Kevin; T. Sherry, Stephen; Xiao, Chunlin; Sebat, Jonathan; Antaki, Danny; Gujral, Madhusudan; Noor, Amina; Ye, Kenny; G. Burchard, Esteban; D. Hernandez, Ryan; R. Gignoux, Christopher; Haussler, David; Katzman, Sol; Kent, Wm.; Howie, Bryan; Ruiz‐Linares, Andrés; T. Dermitzakis, Emmanouil; E. Devine, Scott; R. Abecasis, Gonçalo; Min Kang, Hyun; M. Kidd, Jeffrey; Blackwell, Tom; Caron, Sean; Chen, Wei; Emery, Sarah; G. Fritsche, Lars; Fuchsberger, Christian; Jun, Goo; Li, Bingshan; Lyons, Robert; Scheller, Chris; Sidore, Carlo; Song, Shiya; Śliwerska, Elżbieta; Taliun, Daniel; Tan, Adrian; Welch, Ryan; Kate Wing, Mary; Zhan, Xiaowei; Awadalla, Philip; Hodgkinson, Alan; Li, Yun; Shi, Xinghua; Quitadamo, Andrew; Lunter, Gerton; McVean, Gil; L. Marchini, Jonathan; Myers, Simon; Churchhouse, Claire; Delaneau, Olivier; Gupta Hinch, Anjali; W. Kretzschmar, Warren; Iqbal, Zamin; Mathieson, Iain; Menelaou, Androniki; Rimmer, Andy; K. Xifara, Dionysia; K. Oleksyk, Tarás; Fu, Yun‐Xin; Liu, Xiaoming; Xiong, Momiao; B. Jorde, Lynn; J. Witherspoon, David; Xing, Jinchuan; E. Eichler, Evan; L. Browning, Brian; R. Browning, Sharon; Hormozdiari, Fereydoun; H. Sudmant, Peter; Khurana, Ekta; Durbin, Richard; E. Hurles, Matthew; Tyler-Smith, Chris; A. Albers, Cornelis; Ayub, Qasim; Balasubramaniam, Senduran; Chen, Yuan; Colonna, Vincenza; Danecek, Petr; Jostins, Luke; Keane, Thomas; McCarthy, Shane; Walter, Klaudia; Xue, Yali; Gerstein, Mark; Abyzov, Alexej; Balasubramanian, Suganthi; Chen, Jieming; Clarke, Declan; Fu, Yao; Harmanci, Arif; Jin, Mike; Lee, Donghoon; Liu, Jeremy; Jasmine Mu, Xinmeng; Zhang, Jing; Zhang, Yan; variation group, Structural; , BGI-Shenzhen; Li, Yingrui; Luo, Ruibang; Zhu, Hongmei; Alkan, Can; Dal, Elif; Kahveci, Fatma; T. Marth, Gabor; P. Garrison, Erik; Kural, Deniz; Lee, Wan-Ping; Ward, Alistair; Wu, Jiantao; Zhang, Mengyao; A. McCarroll, Steven; E. Handsaker, Robert; M. Altshuler, David; Banks, Eric; del Angel, Guillermo; Genovese, Giulio; Hartl, Chris; Li, Heng; Kashin, Seva; Nemesh, James; Shakir, Khalid; Yoon, Seungtai; Lihm, Jayon; Makarov, Vladimir; D. Degenhardt, Jeremiah; O. Korbel, Jan; H. Fritz, Markus; Meiers, Sascha; Raeder, Benjamin; Rausch, Tobias; M. Stütz, Adrian; Flicek, Paul; Paolo Casale, Francesco; Clarke, Laura; E. Smith, Richard; Stegle, Oliver; Zheng-Bradley, Xiangqun; , Illumina; R. Bentley, David; Barnes, Bret; Keira Cheetham, R.; Eberle, Michael; Humphray, Sean; D. Kahn, Scott; Murray, Lisa; J. Shaw, Richard; Lameijer, Eric-Wubbo; A. Batzer, Mark; K. Konkel, Miriam; A. Walker, Jerilyn; Ding, Li; M. Hall, Ira; Ye, Kai; Lacroute, Phil; Lee, Charles; Cerveira, Eliza; Malhotra, Ankit; Hwang, Jaeho; Plewczyński, Dariusz; Radew, Kamen; Romanovitch, Mallory; Zhang, Chengsheng; W. Craig, David; Homer, Nils; M. Church, Deanna; Xiao, Chunlin; Sebat, Jonathan; Antaki, Danny; Bafna, Vineet; J. Michaelson, Jacob; Ye, Kenny; E. Devine, Scott; J. Gardner, Eugene; R. Abecasis, Gonçalo; M. Kidd, Jeffrey; E. Mills, Ryan; Dayama, Gargi; Emery, Sarah; Jun, Goo; Shi, Xinghua; Quitadamo, Andrew; Lunter, Gerton; A. McVean, Gil; Chen, Ken; Fan, Xian; Chong, Zechen; Chen, Tenghui; J. Witherspoon, David; Xing, Jinchuan; E. Eichler, Evan; Chaisson, Mark; Hormozdiari, Fereydoun; Huddleston, John; Malig, Maika; J. Nelson, Bradley; H. Sudmant, Peter; F. Parrish, Nicholas; Khurana, Ekta; E. Hurles, Matthew; Blackburne, Ben; Lindsay, Sarah; Ning, Zemin; Walter, Klaudia; Zhang, Yujun; Gerstein, Mark; Abyzov, Alexej; Chen, Jieming; Clarke, Declan; Y. K. Lam, Hugo; Jasmine Mu, Xinmeng; Sisu, Cristina; Zhang, Jing; Zhang, Yan; group, Exome; A. Gibbs, Richard; Yu, Fuli; N. Bainbridge, Matthew; Challis, Danny; S. Evani, Uday; Kovar, Christie; T. Lu, James; Muzny, Donna; Nagaswamy, Uma; G. Reid, Jeffrey; Sabo, Aniko; Yu, Jin; , BGI-Shenzhen; Guo, Xiaosen; Li, Wangshen; Li, Yingrui; Wu, Renhua; Marth, Gábor; P. Garrison, Erik; Fung Leong, Wen; Ward, Alistair; del Angel, Guillermo; A. DePristo, Mark; Gabriel, Stacey; Gupta, Namrata; Hartl, Chris; Poplin, Ryan; G. Clark, Andrew; L. Rodríguez-Flores, Juan; Flicek, Paul; Clarke, Laura; E. Smith, Richard; Zheng-Bradley, Xiangqun; G. MacArthur, Daniel; R. Mardis, Elaine; S. Fulton, Robert; C. Koboldt, Daniel; Gravel, Simon; D. Bustamante, Carlos; W. Craig, David; Christoforides, Alexis; Homer, Nils; Izatt, Tyler; T. Sherry, Stephen; Xiao, Chunlin; T. Dermitzakis, Emmanouil; R. Abecasis, Gonçalo; Min Kang, Hyun; McVean, Gil; B. Gerstein, Mark; Balasubramanian, Suganthi; Habegger, Lukas; interpretation group, Functional; Yu, Haiyuan; Flicek, Paul; Clarke, Laura; Cunningham, Fiona; Dunham, Ian; R. Zerbino, Daniel; Zheng-Bradley, Xiangqun; Lage, Kasper; Berg Jespersen, Jakob; Horn, Heiko; B. Montgomery, Stephen; K. DeGorter, Marianne; Khurana, Ekta; Tyler‐Smith, Chris; Chen, Yuan; Colonna, Vincenza; Xue, Yali; Gerstein, Mark; Balasubramanian, Suganthi; Fu, Yao; Kim, Donghoon; Y group, Chromosome; Auton, Adam; Marcketta, Anthony; DeSalle, Rob; Narechania, Apurva; A. Wilson Sayres, Melissa; P. Garrison, Erik; E. Handsaker, Robert; Kashin, Seva; A. McCarroll, Steven; L. Rodríguez-Flores, Juan; Flicek, Paul; Clarke, Laura; Zheng-Bradley, Xiangqun; Erlich, Yaniv; Gymrek, Melissa; Frederick Willems, Thomas; D. Bustamante, Carlos; L. Méndez, Fernando; David Poznik, G.; A. Underhill, Peter; Lee, Charles; Cerveira, Eliza; Malhotra, Ankit; Romanovitch, Mallory; Zhang, Chengsheng; R. Abecasis, Gonçalo; Coin, Lachlan; Shao, Haojing; Mittelman, David; Tyler-Smith, Chris; Ayub, Qasim; Banerjee, Ruby; Cerezo, María; Chen, Yuan; W. Fitzgerald, Thomas; Louzada, Sandra; Massaia, Andrea; McCarthy, Shane; R. S. Ritchie, Graham; Xue, Yali; Yang, Fengtang; A. Gibbs, Richard; Kovar, Christie; Kalra, Divya; Hale, Walker; Muzny, Donna; G. Reid, Jeffrey; , BGI-Shenzhen; Wang, Jun; Dan, Xu; Guo, Xiaosen; Li, Guoqing; Li, Yingrui; Ye, Chen; Zheng, Xiaole; M. Altshuler, David; Flicek, Paul; Clarke, Laura; Zheng-Bradley, Xiangqun; , Illumina; Bentley, David; J. Cox, Anthony; Humphray, Sean; Kahn, Scott; Sudbrak, Ralf; W. Albrecht, Marcus; Lienhard, Matthias; E. Larson, David; W. Craig, David; Izatt, Tyler; Kurdoglu, Ahmet; T. Sherry, Stephen; Xiao, Chunlin; Haussler, David; R. Abecasis, Gonçalo; A. McVean, Gil; M. Durbin, Richard; Balasubramaniam, Senduran; Keane, Thomas; McCarthy, Shane; Stalker, James; and ELSI group, Samples; Chakravarti, Aravinda; M. Knoppers, Bartha; R. Abecasis, Gonçalo; C. Barnes, Kathleen; Beiswanger, Christine; G. Burchard, Esteban; D. Bustamante, Carlos; Cai, Hongyu; Cao, Hongzhi; M. Durbin, Richard; P. Gerry, Norman; Gharani, Neda; A. Gibbs, Richard; R. Gignoux, Christopher; Gravel, Simon; M. Henn, Brenna; A. Jones, D.; B. Jorde, Lynn; Kaye, Jane; Keinan, Alon; Kent, Alastair; Kerasidou, Angeliki; Li, Yingrui; A. Mathias, Rasika; A. McVean, Gil; Moreno-Estrada, Andres; N. Ossorio, Pilar; Parker, Michael; Resch, Alissa; N. Rotimi, Charles; Royal, Charmaine; Sandoval, Karla; Su, Yeyang; Sudbrak, Ralf; Tian, Zhongming; A. Tishkoff, Sarah; H. Toji, Lorraine; Tyler-Smith, Chris; Vía, Marc; Wang, Yuhong; Yang, Huanming; Yang, Ling; Zhu, Jiayong; collection, Sample; from England and Scotland (GBR), British; F. Bodmer, Walter; in Medellín, Colombia (CLM), Colombians; Bedoya, Gabriel; Ruiz‐Linares, Andrés; Chinese South (CHS), Han; Cai, Zhiming; Gao, Yang; Chu, Jiayou; in Finland (FIN), Finnish; Peltonen, Leena; Populations in Spain (IBS), Iberian; C. García‐Montero, Andrés; Órfão, Alberto; Ricans in Puerto Rico (PUR), Puerto; Dutil, Julie; Carlos Martínez‐Cruzado, Juan; K. Oleksyk, Tarás; Caribbean in Barbados (ACB), African; C. Barnes, Kathleen; A. Mathias, Rasika; Hennis, Anselm; Watson, Harold; A. McKenzie, Colin; in Bangladesh (BEB), Bengali; Qadri, Firdausi; C. LaRocque, Regina; C. Sabeti, Pardis; Dai in Xishuangbanna, China (CDX), Chinese; Zhu, Jiayong; Deng, Xiaoyan; in Nigeria (ESN), Esan; C. Sabeti, Pardis; Asogun, Danny; Folarin, Onikepe; Happi, Christian; Omoniwa, Omonwunmi; Stremlau, Matt; Tariyal, Ridhi; in Western Division – Mandinka (GWD), Gambian; Jallow, Muminatou; Sisay Joof, Fatoumatta; Corrah, Tumani; A. Rockett, Kirk; Kwiatkowski, Dominic; Telugu in the UK (ITU) and Sri Lankan Tamil in the UK (STU), Indian; S. Kooner, Jaspal; in Ho Chi Minh City, Vietnam (KHV), Kinh; Tịnh Hiê`n, Trâ`n; J. Dunstan, Sarah; Thuy Hang, Nguyen; in Sierra Leone (MSL), Mende; Fonnie, Richard; F. Garry, Robert; Kanneh, Lansana; Moses, Lina; C. Sabeti, Pardis; S. Schieffelin, John; S. Grant, Donald; in Lima, Peru (PEL), Peruvian; Gallo, Carla; Poletti, Giovanni; in Lahore, Pakistan (PJL), Punjabi; Saleheen, Danish; Rasheed, Asif; management, Scientific; Brooks, Lisa; L. Felsenfeld, Adam; E. McEwen, Jean; Vaydylevich, Yekaterina; D. Green, Eric; Duncanson, Audrey; Dunn, Michael; A. Schloss, Jeffery; Wang, Jun; Yang, Huanming; group, Writing; Auton, Adam; Brooks, Lisa; Durbin, Richard; P. Garrison, Erik; Min Kang, Hyun; O. Korbel, Jan; L. Marchini, Jonathan; McCarthy, Shane; A. McVean, Gil; R. Abecasis, Gonçalo

doi:10.1038/nature15393

Public

A global reference for human genetic variation

Published in Nature • Sep 29, 2015

Authors:

Corresponding authors

Adam Auton

Gonçalo R. Abecasis

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 fro...

Subject

1000 Genomes Project

Genome

Biology

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