A global reference for human genetic variation

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

Research output: Contribution to journalReview article

3399 Citations (Scopus)

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 >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.

Original languageEnglish (US)
Pages (from-to)68-74
Number of pages7
JournalNature
Volume526
Issue number7571
DOIs
StatePublished - Sep 30 2015
Externally publishedYes

Fingerprint

Medical Genetics
Genome
Single Nucleotide Polymorphism
Exome
High-Throughput Nucleotide Sequencing
Haplotypes
Population

ASJC Scopus subject areas

  • General

Cite this

Auton, A., Abecasis, G. R., Altshuler, D. M., Durbin, R. M., Bentley, D. R., Chakravarti, A., ... Schloss, J. A. (2015). A global reference for human genetic variation. Nature, 526(7571), 68-74. https://doi.org/10.1038/nature15393

A global reference for human genetic variation. / Auton, Adam; Abecasis, Gonçalo R.; Altshuler, David M.; Durbin, Richard M.; Bentley, David R.; Chakravarti, Aravinda; Clark, Andrew G.; Donnelly, Peter; Eichler, Evan E.; Flicek, Paul; Gabriel, Stacey B.; Gibbs, Richard A.; Green, Eric D.; Hurles, Matthew E.; Knoppers, Bartha M.; Korbel, Jan O.; Lander, Eric S.; Lee, Charles; Lehrach, Hans; Mardis, Elaine R.; Marth, Gabor T.; McVean, Gil A.; Nickerson, Deborah A.; Schmidt, Jeanette P.; Sherry, Stephen T.; Wang, Jun; Wilson, Richard K.; Boerwinkle, Eric; Doddapaneni, Harsha; Han, Yi; Korchina, Viktoriya; Kovar, Christie; Lee, Sandra; Muzny, Donna; Reid, Jeffrey G.; Zhu, Yiming; 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; Gupta, Namrata; Gharani, Neda; Toji, Lorraine H.; Gerry, Norman P.; Resch, Alissa M.; Barker, Jonathan; Clarke, Laura; Gil, Laurent; Hunt, Sarah E.; Kelman, Gavin; Kulesha, Eugene; Leinonen, Rasko; McLaren, William M.; Radhakrishnan, Rajesh; Roa, Asier; Smirnov, Dmitriy; Smith, Richard E.; Streeter, Ian; Thormann, Anja; Toneva, Iliana; Vaughan, Brendan; Zheng-Bradley, Xiangqun; Grocock, Russell; Humphray, Sean; James, Terena; Kingsbury, Zoya; Sudbrak, Ralf; Albrecht, Marcus W.; Amstislavskiy, Vyacheslav S.; Borodina, Tatiana A.; Lienhard, Matthias; Mertes, Florian; Sultan, Marc; Timmermann, Bernd; Yaspo, Marie Laure; Fulton, Lucinda; Ananiev, Victor; Belaia, Zinaida; Beloslyudtsev, Dimitriy; Bouk, Nathan; Chen, Chao; 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, Valerie; Shekhtman, Eugene; Sirotkin, Karl; Slotta, Douglas; Zhang, Hua; Balasubramaniam, Senduran; Burton, John; Danecek, Petr; Keane, Thomas M.; Kolb-Kokocinski, Anja; McCarthy, Shane; Stalker, James; Quail, Michael; Davies, Christopher J.; Gollub, Jeremy; Webster, Teresa; Wong, Brant; Zhan, Yiping; Campbell, Christopher L.; Kong, Yu; Marcketta, Anthony; Yu, Fuli; Antunes, Lilian; Bainbridge, Matthew; Sabo, Aniko; Huang, Zhuoyi; Coin, Lachlan J.M.; Fang, Lin; Li, Qibin; 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; Garrison, Erik P.; Kural, Deniz; Lee, Wan Ping; Leong, Wen Fung; Stromberg, Michael; Ward, Alistair N.; Wu, Jiantao; Zhang, Mengyao; Daly, Mark J.; DePristo, Mark A.; Handsaker, Robert E.; Banks, Eric; Bhatia, Gaurav; Del Angel, Guillermo; Genovese, Giulio; Li, Heng; Kashin, Seva; McCarroll, Steven A.; Nemesh, James C.; Poplin, Ryan E.; Yoon, Seungtai C.; Lihm, Jayon; Makarov, Vladimir; Gottipati, Srikanth; Keinan, Alon; Rodriguez-Flores, Juan L.; Rausch, Tobias; Fritz, Markus H.; Stütz, Adrian M.; Beal, Kathryn; Datta, Avik; Herrero, Javier; Ritchie, Graham R.S.; Zerbino, Daniel; Sabeti, Pardis C.; Shlyakhter, Ilya; Schaffner, Stephen F.; Vitti, Joseph; Cooper, David N.; Ball, Edward V.; Stenson, Peter D.; Barnes, Bret; Bauer, Markus; Cheetham, R. Keira; Cox, Anthony; Eberle, Michael; Kahn, Scott; Murray, Lisa; Peden, John; Shaw, Richard; Kenny, Eimear E.; Batzer, Mark A.; Konkel, Miriam K.; Walker, Jerilyn A.; MacArthur, Daniel G.; Lek, Monkol; Herwig, Ralf; Ding, Li; Koboldt, Daniel C.; Larson, David; Ye, Kai; Gravel, Simon; Swaroop, Anand; Chew, Emily; Lappalainen, Tuuli; Erlich, Yaniv; Gymrek, Melissa; Willems, Thomas Frederick; Simpson, Jared T.; Shriver, Mark D.; Rosenfeld, Jeffrey A.; Bustamante, Carlos D.; Montgomery, Stephen B.; De La Vega, Francisco M.; Byrnes, Jake K.; Carroll, Andrew W.; DeGorter, Marianne K.; Lacroute, Phil; Maples, Brian K.; Martin, Alicia R.; Moreno-Estrada, Andres; Shringarpure, Suyash S.; Zakharia, Fouad; Halperin, Eran; Baran, Yael; Cerveira, Eliza; Hwang, Jaeho; Malhotra, Ankit; Plewczynski, Dariusz; Radew, Kamen; Romanovitch, Mallory; Zhang, Chengsheng; Hyland, Fiona C.L.; Craig, David W.; Christoforides, Alexis; Homer, Nils; Izatt, Tyler; Kurdoglu, Ahmet A.; Sinari, Shripad A.; Squire, Kevin; Xiao, Chunlin; Sebat, Jonathan; Antaki, Danny; Gujral, Madhusudan; Noor, Amina; Ye, Kenny; Burchard, Esteban G.; Hernandez, Ryan D.; Gignoux, Christopher R.; Haussler, David; Katzman, Sol J.; Kent, W. James; Howie, Bryan; Ruiz-Linares, Andres; Dermitzakis, Emmanouil T.; Devine, Scott E.; Kang, Hyun Min; Kidd, Jeffrey M.; Blackwell, Tom; Caron, Sean; Chen, Wei; Emery, Sarah; Fritsche, Lars; Fuchsberger, Christian; Jun, Goo; Li, Bingshan; Lyons, Robert; Scheller, Chris; Sidore, Carlo; Song, Shiya; Sliwerska, Elzbieta; Taliun, Daniel; Tan, Adrian; Welch, Ryan; Wing, Mary Kate; Zhan, Xiaowei; Awadalla, Philip; Hodgkinson, Alan; Li, Yun; Shi, Xinghua; Quitadamo, Andrew; Lunter, Gerton; Marchini, Jonathan L.; Myers, Simon; Churchhouse, Claire; Delaneau, Olivier; Gupta-Hinch, Anjali; Kretzschmar, Warren; Iqbal, Zamin; Mathieson, Iain; Menelaou, Androniki; Rimmer, Andy; Xifara, Dionysia K.; Oleksyk, Taras K.; Fu, Yunxin; Liu, Xiaoming; Xiong, Momiao; Jorde, Lynn; Witherspoon, David; Xing, Jinchuan; Browning, Brian L.; Browning, Sharon R.; Hormozdiari, Fereydoun; Sudmant, Peter H.; Khurana, Ekta; Tyler-Smith, Chris; Albers, Cornelis A.; Ayub, Qasim; Chen, Yuan; Colonna, Vincenza; Jostins, Luke; Walter, Klaudia; Xue, Yali; Gerstein, Mark B.; Abyzov, Alexej; Balasubramanian, Suganthi; Chen, Jieming; Clarke, Declan; Fu, Yao; Harmanci, Arif O.; Jin, Mike; Lee, Donghoon; Liu, Jeremy; Mu, Xinmeng Jasmine; Zhang, Jing; Zhang, Yan; Hartl, Chris; Shakir, Khalid; Degenhardt, Jeremiah; Meiers, Sascha; Raeder, Benjamin; Casale, Francesco Paolo; Stegle, Oliver; Lameijer, Eric Wubbo; Hall, Ira; Bafna, Vineet; Michaelson, Jacob; Gardner, Eugene J.; Mills, Ryan E.; Dayama, Gargi; Chen, Ken; Fan, Xian; Chong, Zechen; Chen, Tenghui; Chaisson, Mark J.; Huddleston, John; Malig, Maika; Nelson, Bradley J.; Parrish, Nicholas F.; Blackburne, Ben; Lindsay, Sarah J.; Ning, Zemin; Zhang, Yujun; Lam, Hugo; Sisu, Cristina; Challis, Danny; Evani, Uday S.; Lu, James; Nagaswamy, Uma; Yu, Jin; Li, Wangshen; Habegger, Lukas; Yu, Haiyuan; Cunningham, Fiona; Dunham, Ian; Lage, Kasper; Jespersen, Jakob Berg; Horn, Heiko; Kim, Donghoon; Desalle, Rob; Narechania, Apurva; Sayres, Melissa A.Wilson; Mendez, Fernando L.; Poznik, G. David; Underhill, Peter A.; Mittelman, David; Banerjee, Ruby; Cerezo, Maria; Fitzgerald, Thomas W.; Louzada, Sandra; Massaia, Andrea; Yang, Fengtang; Kalra, Divya; Hale, Walker; Dan, Xu; Barnes, Kathleen C.; Beiswanger, Christine; Cai, Hongyu; Cao, Hongzhi; Henn, Brenna; Jones, Danielle; Kaye, Jane S.; Kent, Alastair; Kerasidou, Angeliki; Mathias, Rasika; Ossorio, Pilar N.; Parker, Michael; Rotimi, Charles N.; Royal, Charmaine D.; Sandoval, Karla; Su, Yeyang; Tian, Zhongming; Tishkoff, Sarah; Via, Marc; Wang, Yuhong; Yang, Huanming; Yang, Ling; Zhu, Jiayong; Bodmer, Walter; Bedoya, Gabriel; Cai, Zhiming; Gao, Yang; Chu, Jiayou; Peltonen, Leena; Garcia-Montero, Andres; Orfao, Alberto; Dutil, Julie; Martinez-Cruzado, Juan C.; Mathias, Rasika A.; Hennis, Anselm; Watson, Harold; McKenzie, Colin; Qadri, Firdausi; LaRocque, Regina; Deng, Xiaoyan; Asogun, Danny; Folarin, Onikepe; Happi, Christian; Omoniwa, Omonwunmi; Stremlau, Matt; Tariyal, Ridhi; Jallow, Muminatou; Joof, Fatoumatta Sisay; Corrah, Tumani; Rockett, Kirk; Kwiatkowski, Dominic; Kooner, Jaspal; Hien, Tran Tinh; Dunstan, Sarah J.; ThuyHang, Nguyen; Fonnie, Richard; Garry, Robert; Kanneh, Lansana; Moses, Lina; Schieffelin, John; Grant, Donald S.; Gallo, Carla; Poletti, Giovanni; Saleheen, Danish; Rasheed, Asif; Brooks, Lisa D.; Felsenfeld, Adam L.; McEwen, Jean E.; Vaydylevich, Yekaterina; Duncanson, Audrey; Dunn, Michael; Schloss, Jeffery A.

In: Nature, Vol. 526, No. 7571, 30.09.2015, p. 68-74.

Research output: Contribution to journalReview article

Auton, A, Abecasis, GR, Altshuler, DM, Durbin, RM, Bentley, DR, Chakravarti, A, Clark, AG, Donnelly, P, Eichler, EE, Flicek, P, Gabriel, SB, Gibbs, RA, Green, ED, Hurles, ME, Knoppers, BM, Korbel, JO, Lander, ES, Lee, C, Lehrach, H, Mardis, ER, Marth, GT, McVean, GA, Nickerson, DA, Schmidt, JP, Sherry, ST, Wang, J, Wilson, RK, Boerwinkle, E, Doddapaneni, H, Han, Y, Korchina, V, Kovar, C, Lee, S, Muzny, D, Reid, JG, Zhu, Y, 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, Gupta, N, Gharani, N, Toji, LH, Gerry, NP, Resch, AM, Barker, J, Clarke, L, Gil, L, Hunt, SE, Kelman, G, Kulesha, E, Leinonen, R, McLaren, WM, Radhakrishnan, R, Roa, A, Smirnov, D, Smith, RE, Streeter, I, Thormann, A, Toneva, I, Vaughan, B, Zheng-Bradley, X, Grocock, R, Humphray, S, James, T, Kingsbury, Z, Sudbrak, R, Albrecht, MW, Amstislavskiy, VS, Borodina, TA, Lienhard, M, Mertes, F, Sultan, M, Timmermann, B, Yaspo, ML, Fulton, L, 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, Balasubramaniam, S, Burton, J, Danecek, P, Keane, TM, Kolb-Kokocinski, A, McCarthy, S, Stalker, J, Quail, M, Davies, CJ, Gollub, J, Webster, T, Wong, B, Zhan, Y, Campbell, CL, Kong, Y, Marcketta, A, Yu, F, Antunes, L, Bainbridge, M, Sabo, A, Huang, Z, Coin, LJM, Fang, L, Li, Q, 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, Garrison, EP, Kural, D, Lee, WP, Leong, WF, Stromberg, M, Ward, AN, Wu, J, Zhang, M, Daly, MJ, DePristo, MA, Handsaker, RE, Banks, E, Bhatia, G, Del Angel, G, Genovese, G, Li, H, Kashin, S, McCarroll, SA, Nemesh, JC, Poplin, RE, Yoon, SC, Lihm, J, Makarov, V, Gottipati, S, Keinan, A, Rodriguez-Flores, JL, Rausch, T, Fritz, MH, Stütz, AM, Beal, K, Datta, A, Herrero, J, Ritchie, GRS, Zerbino, D, Sabeti, PC, Shlyakhter, I, Schaffner, SF, Vitti, J, Cooper, DN, Ball, EV, Stenson, PD, Barnes, B, Bauer, M, Cheetham, RK, Cox, A, Eberle, M, Kahn, S, Murray, L, Peden, J, Shaw, R, Kenny, EE, Batzer, MA, Konkel, MK, Walker, JA, MacArthur, DG, Lek, M, Herwig, R, Ding, L, Koboldt, DC, Larson, D, Ye, K, Gravel, S, Swaroop, A, Chew, E, Lappalainen, T, Erlich, Y, Gymrek, M, Willems, TF, Simpson, JT, Shriver, MD, Rosenfeld, JA, Bustamante, CD, Montgomery, SB, De La Vega, FM, Byrnes, JK, Carroll, AW, DeGorter, MK, Lacroute, P, Maples, BK, Martin, AR, Moreno-Estrada, A, Shringarpure, SS, Zakharia, F, Halperin, E, Baran, Y, Cerveira, E, Hwang, J, Malhotra, A, Plewczynski, D, Radew, K, Romanovitch, M, Zhang, C, Hyland, FCL, Craig, DW, Christoforides, A, Homer, N, Izatt, T, Kurdoglu, AA, Sinari, SA, Squire, K, Xiao, C, Sebat, J, Antaki, D, Gujral, M, Noor, A, Ye, K, Burchard, EG, Hernandez, RD, Gignoux, CR, Haussler, D, Katzman, SJ, Kent, WJ, Howie, B, Ruiz-Linares, A, Dermitzakis, ET, Devine, SE, Kang, HM, Kidd, JM, Blackwell, T, Caron, S, Chen, W, Emery, S, Fritsche, L, Fuchsberger, C, Jun, G, Li, B, Lyons, R, Scheller, C, Sidore, C, Song, S, Sliwerska, E, Taliun, D, Tan, A, Welch, R, Wing, MK, Zhan, X, Awadalla, P, Hodgkinson, A, Li, Y, Shi, X, Quitadamo, A, Lunter, G, Marchini, JL, Myers, S, Churchhouse, C, Delaneau, O, Gupta-Hinch, A, Kretzschmar, W, Iqbal, Z, Mathieson, I, Menelaou, A, Rimmer, A, Xifara, DK, Oleksyk, TK, Fu, Y, Liu, X, Xiong, M, Jorde, L, Witherspoon, D, Xing, J, Browning, BL, Browning, SR, Hormozdiari, F, Sudmant, PH, Khurana, E, Tyler-Smith, C, Albers, CA, Ayub, Q, Chen, Y, Colonna, V, Jostins, L, Walter, K, Xue, Y, Gerstein, MB, Abyzov, A, Balasubramanian, S, Chen, J, Clarke, D, Fu, Y, Harmanci, AO, Jin, M, Lee, D, Liu, J, Mu, XJ, Zhang, J, Zhang, Y, Hartl, C, Shakir, K, Degenhardt, J, Meiers, S, Raeder, B, Casale, FP, Stegle, O, Lameijer, EW, Hall, I, Bafna, V, Michaelson, J, Gardner, EJ, Mills, RE, Dayama, G, Chen, K, Fan, X, Chong, Z, Chen, T, Chaisson, MJ, Huddleston, J, Malig, M, Nelson, BJ, Parrish, NF, Blackburne, B, Lindsay, SJ, Ning, Z, Zhang, Y, Lam, H, Sisu, C, Challis, D, Evani, US, Lu, J, Nagaswamy, U, Yu, J, Li, W, Habegger, L, Yu, H, Cunningham, F, Dunham, I, Lage, K, Jespersen, JB, Horn, H, Kim, D, Desalle, R, Narechania, A, Sayres, MAW, Mendez, FL, Poznik, GD, Underhill, PA, Mittelman, D, Banerjee, R, Cerezo, M, Fitzgerald, TW, Louzada, S, Massaia, A, Yang, F, Kalra, D, Hale, W, Dan, X, Barnes, KC, Beiswanger, C, Cai, H, Cao, H, Henn, B, Jones, D, Kaye, JS, Kent, A, Kerasidou, A, Mathias, R, Ossorio, PN, Parker, M, Rotimi, CN, Royal, CD, Sandoval, K, Su, Y, Tian, Z, Tishkoff, S, Via, M, Wang, Y, Yang, H, Yang, L, Zhu, J, Bodmer, W, Bedoya, G, Cai, Z, Gao, Y, Chu, J, Peltonen, L, Garcia-Montero, A, Orfao, A, Dutil, J, Martinez-Cruzado, JC, Mathias, RA, Hennis, A, Watson, H, McKenzie, C, Qadri, F, LaRocque, R, Deng, X, Asogun, D, Folarin, O, Happi, C, Omoniwa, O, Stremlau, M, Tariyal, R, Jallow, M, Joof, FS, Corrah, T, Rockett, K, Kwiatkowski, D, Kooner, J, Hien, TT, Dunstan, SJ, ThuyHang, N, Fonnie, R, Garry, R, Kanneh, L, Moses, L, Schieffelin, J, Grant, DS, Gallo, C, Poletti, G, Saleheen, D, Rasheed, A, Brooks, LD, Felsenfeld, AL, McEwen, JE, Vaydylevich, Y, Duncanson, A, Dunn, M & Schloss, JA 2015, 'A global reference for human genetic variation', Nature, vol. 526, no. 7571, pp. 68-74. https://doi.org/10.1038/nature15393
Auton A, Abecasis GR, Altshuler DM, Durbin RM, Bentley DR, Chakravarti A et al. A global reference for human genetic variation. Nature. 2015 Sep 30;526(7571):68-74. https://doi.org/10.1038/nature15393
Auton, Adam ; Abecasis, Gonçalo R. ; Altshuler, David M. ; Durbin, Richard M. ; Bentley, David R. ; Chakravarti, Aravinda ; Clark, Andrew G. ; Donnelly, Peter ; Eichler, Evan E. ; Flicek, Paul ; Gabriel, Stacey B. ; Gibbs, Richard A. ; Green, Eric D. ; Hurles, Matthew E. ; Knoppers, Bartha M. ; Korbel, Jan O. ; Lander, Eric S. ; Lee, Charles ; Lehrach, Hans ; Mardis, Elaine R. ; Marth, Gabor T. ; McVean, Gil A. ; Nickerson, Deborah A. ; Schmidt, Jeanette P. ; Sherry, Stephen T. ; Wang, Jun ; Wilson, Richard K. ; Boerwinkle, Eric ; Doddapaneni, Harsha ; Han, Yi ; Korchina, Viktoriya ; Kovar, Christie ; Lee, Sandra ; Muzny, Donna ; Reid, Jeffrey G. ; Zhu, Yiming ; 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 ; Gupta, Namrata ; Gharani, Neda ; Toji, Lorraine H. ; Gerry, Norman P. ; Resch, Alissa M. ; Barker, Jonathan ; Clarke, Laura ; Gil, Laurent ; Hunt, Sarah E. ; Kelman, Gavin ; Kulesha, Eugene ; Leinonen, Rasko ; McLaren, William M. ; Radhakrishnan, Rajesh ; Roa, Asier ; Smirnov, Dmitriy ; Smith, Richard E. ; Streeter, Ian ; Thormann, Anja ; Toneva, Iliana ; Vaughan, Brendan ; Zheng-Bradley, Xiangqun ; Grocock, Russell ; Humphray, Sean ; James, Terena ; Kingsbury, Zoya ; Sudbrak, Ralf ; Albrecht, Marcus W. ; Amstislavskiy, Vyacheslav S. ; Borodina, Tatiana A. ; Lienhard, Matthias ; Mertes, Florian ; Sultan, Marc ; Timmermann, Bernd ; Yaspo, Marie Laure ; Fulton, Lucinda ; Ananiev, Victor ; Belaia, Zinaida ; Beloslyudtsev, Dimitriy ; Bouk, Nathan ; Chen, Chao ; 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, Valerie ; Shekhtman, Eugene ; Sirotkin, Karl ; Slotta, Douglas ; Zhang, Hua ; Balasubramaniam, Senduran ; Burton, John ; Danecek, Petr ; Keane, Thomas M. ; Kolb-Kokocinski, Anja ; McCarthy, Shane ; Stalker, James ; Quail, Michael ; Davies, Christopher J. ; Gollub, Jeremy ; Webster, Teresa ; Wong, Brant ; Zhan, Yiping ; Campbell, Christopher L. ; Kong, Yu ; Marcketta, Anthony ; Yu, Fuli ; Antunes, Lilian ; Bainbridge, Matthew ; Sabo, Aniko ; Huang, Zhuoyi ; Coin, Lachlan J.M. ; Fang, Lin ; Li, Qibin ; 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 ; Garrison, Erik P. ; Kural, Deniz ; Lee, Wan Ping ; Leong, Wen Fung ; Stromberg, Michael ; Ward, Alistair N. ; Wu, Jiantao ; Zhang, Mengyao ; Daly, Mark J. ; DePristo, Mark A. ; Handsaker, Robert E. ; Banks, Eric ; Bhatia, Gaurav ; Del Angel, Guillermo ; Genovese, Giulio ; Li, Heng ; Kashin, Seva ; McCarroll, Steven A. ; Nemesh, James C. ; Poplin, Ryan E. ; Yoon, Seungtai C. ; Lihm, Jayon ; Makarov, Vladimir ; Gottipati, Srikanth ; Keinan, Alon ; Rodriguez-Flores, Juan L. ; Rausch, Tobias ; Fritz, Markus H. ; Stütz, Adrian M. ; Beal, Kathryn ; Datta, Avik ; Herrero, Javier ; Ritchie, Graham R.S. ; Zerbino, Daniel ; Sabeti, Pardis C. ; Shlyakhter, Ilya ; Schaffner, Stephen F. ; Vitti, Joseph ; Cooper, David N. ; Ball, Edward V. ; Stenson, Peter D. ; Barnes, Bret ; Bauer, Markus ; Cheetham, R. Keira ; Cox, Anthony ; Eberle, Michael ; Kahn, Scott ; Murray, Lisa ; Peden, John ; Shaw, Richard ; Kenny, Eimear E. ; Batzer, Mark A. ; Konkel, Miriam K. ; Walker, Jerilyn A. ; MacArthur, Daniel G. ; Lek, Monkol ; Herwig, Ralf ; Ding, Li ; Koboldt, Daniel C. ; Larson, David ; Ye, Kai ; Gravel, Simon ; Swaroop, Anand ; Chew, Emily ; Lappalainen, Tuuli ; Erlich, Yaniv ; Gymrek, Melissa ; Willems, Thomas Frederick ; Simpson, Jared T. ; Shriver, Mark D. ; Rosenfeld, Jeffrey A. ; Bustamante, Carlos D. ; Montgomery, Stephen B. ; De La Vega, Francisco M. ; Byrnes, Jake K. ; Carroll, Andrew W. ; DeGorter, Marianne K. ; Lacroute, Phil ; Maples, Brian K. ; Martin, Alicia R. ; Moreno-Estrada, Andres ; Shringarpure, Suyash S. ; Zakharia, Fouad ; Halperin, Eran ; Baran, Yael ; Cerveira, Eliza ; Hwang, Jaeho ; Malhotra, Ankit ; Plewczynski, Dariusz ; Radew, Kamen ; Romanovitch, Mallory ; Zhang, Chengsheng ; Hyland, Fiona C.L. ; Craig, David W. ; Christoforides, Alexis ; Homer, Nils ; Izatt, Tyler ; Kurdoglu, Ahmet A. ; Sinari, Shripad A. ; Squire, Kevin ; Xiao, Chunlin ; Sebat, Jonathan ; Antaki, Danny ; Gujral, Madhusudan ; Noor, Amina ; Ye, Kenny ; Burchard, Esteban G. ; Hernandez, Ryan D. ; Gignoux, Christopher R. ; Haussler, David ; Katzman, Sol J. ; Kent, W. James ; Howie, Bryan ; Ruiz-Linares, Andres ; Dermitzakis, Emmanouil T. ; Devine, Scott E. ; Kang, Hyun Min ; Kidd, Jeffrey M. ; Blackwell, Tom ; Caron, Sean ; Chen, Wei ; Emery, Sarah ; Fritsche, Lars ; Fuchsberger, Christian ; Jun, Goo ; Li, Bingshan ; Lyons, Robert ; Scheller, Chris ; Sidore, Carlo ; Song, Shiya ; Sliwerska, Elzbieta ; Taliun, Daniel ; Tan, Adrian ; Welch, Ryan ; Wing, Mary Kate ; Zhan, Xiaowei ; Awadalla, Philip ; Hodgkinson, Alan ; Li, Yun ; Shi, Xinghua ; Quitadamo, Andrew ; Lunter, Gerton ; Marchini, Jonathan L. ; Myers, Simon ; Churchhouse, Claire ; Delaneau, Olivier ; Gupta-Hinch, Anjali ; Kretzschmar, Warren ; Iqbal, Zamin ; Mathieson, Iain ; Menelaou, Androniki ; Rimmer, Andy ; Xifara, Dionysia K. ; Oleksyk, Taras K. ; Fu, Yunxin ; Liu, Xiaoming ; Xiong, Momiao ; Jorde, Lynn ; Witherspoon, David ; Xing, Jinchuan ; Browning, Brian L. ; Browning, Sharon R. ; Hormozdiari, Fereydoun ; Sudmant, Peter H. ; Khurana, Ekta ; Tyler-Smith, Chris ; Albers, Cornelis A. ; Ayub, Qasim ; Chen, Yuan ; Colonna, Vincenza ; Jostins, Luke ; Walter, Klaudia ; Xue, Yali ; Gerstein, Mark B. ; Abyzov, Alexej ; Balasubramanian, Suganthi ; Chen, Jieming ; Clarke, Declan ; Fu, Yao ; Harmanci, Arif O. ; Jin, Mike ; Lee, Donghoon ; Liu, Jeremy ; Mu, Xinmeng Jasmine ; Zhang, Jing ; Zhang, Yan ; Hartl, Chris ; Shakir, Khalid ; Degenhardt, Jeremiah ; Meiers, Sascha ; Raeder, Benjamin ; Casale, Francesco Paolo ; Stegle, Oliver ; Lameijer, Eric Wubbo ; Hall, Ira ; Bafna, Vineet ; Michaelson, Jacob ; Gardner, Eugene J. ; Mills, Ryan E. ; Dayama, Gargi ; Chen, Ken ; Fan, Xian ; Chong, Zechen ; Chen, Tenghui ; Chaisson, Mark J. ; Huddleston, John ; Malig, Maika ; Nelson, Bradley J. ; Parrish, Nicholas F. ; Blackburne, Ben ; Lindsay, Sarah J. ; Ning, Zemin ; Zhang, Yujun ; Lam, Hugo ; Sisu, Cristina ; Challis, Danny ; Evani, Uday S. ; Lu, James ; Nagaswamy, Uma ; Yu, Jin ; Li, Wangshen ; Habegger, Lukas ; Yu, Haiyuan ; Cunningham, Fiona ; Dunham, Ian ; Lage, Kasper ; Jespersen, Jakob Berg ; Horn, Heiko ; Kim, Donghoon ; Desalle, Rob ; Narechania, Apurva ; Sayres, Melissa A.Wilson ; Mendez, Fernando L. ; Poznik, G. David ; Underhill, Peter A. ; Mittelman, David ; Banerjee, Ruby ; Cerezo, Maria ; Fitzgerald, Thomas W. ; Louzada, Sandra ; Massaia, Andrea ; Yang, Fengtang ; Kalra, Divya ; Hale, Walker ; Dan, Xu ; Barnes, Kathleen C. ; Beiswanger, Christine ; Cai, Hongyu ; Cao, Hongzhi ; Henn, Brenna ; Jones, Danielle ; Kaye, Jane S. ; Kent, Alastair ; Kerasidou, Angeliki ; Mathias, Rasika ; Ossorio, Pilar N. ; Parker, Michael ; Rotimi, Charles N. ; Royal, Charmaine D. ; Sandoval, Karla ; Su, Yeyang ; Tian, Zhongming ; Tishkoff, Sarah ; Via, Marc ; Wang, Yuhong ; Yang, Huanming ; Yang, Ling ; Zhu, Jiayong ; Bodmer, Walter ; Bedoya, Gabriel ; Cai, Zhiming ; Gao, Yang ; Chu, Jiayou ; Peltonen, Leena ; Garcia-Montero, Andres ; Orfao, Alberto ; Dutil, Julie ; Martinez-Cruzado, Juan C. ; Mathias, Rasika A. ; Hennis, Anselm ; Watson, Harold ; McKenzie, Colin ; Qadri, Firdausi ; LaRocque, Regina ; Deng, Xiaoyan ; Asogun, Danny ; Folarin, Onikepe ; Happi, Christian ; Omoniwa, Omonwunmi ; Stremlau, Matt ; Tariyal, Ridhi ; Jallow, Muminatou ; Joof, Fatoumatta Sisay ; Corrah, Tumani ; Rockett, Kirk ; Kwiatkowski, Dominic ; Kooner, Jaspal ; Hien, Tran Tinh ; Dunstan, Sarah J. ; ThuyHang, Nguyen ; Fonnie, Richard ; Garry, Robert ; Kanneh, Lansana ; Moses, Lina ; Schieffelin, John ; Grant, Donald S. ; Gallo, Carla ; Poletti, Giovanni ; Saleheen, Danish ; Rasheed, Asif ; Brooks, Lisa D. ; Felsenfeld, Adam L. ; McEwen, Jean E. ; Vaydylevich, Yekaterina ; Duncanson, Audrey ; Dunn, Michael ; Schloss, Jeffery A. / A global reference for human genetic variation. In: Nature. 2015 ; Vol. 526, No. 7571. pp. 68-74.
@article{04b65bae159d46ee9fe485ec9a3c13be,
title = "A global reference for human genetic variation",
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 >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.",
author = "Adam Auton and Abecasis, {Gon{\cc}alo R.} and Altshuler, {David M.} and Durbin, {Richard M.} and Bentley, {David R.} and Aravinda Chakravarti and Clark, {Andrew G.} and Peter Donnelly and Eichler, {Evan E.} and Paul Flicek 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 Charles Lee and Hans Lehrach 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 Jun Wang and Wilson, {Richard K.} and Eric Boerwinkle and Harsha Doddapaneni and Yi Han and Viktoriya Korchina and Christie Kovar and Sandra Lee and Donna Muzny and Reid, {Jeffrey G.} and Yiming Zhu and Yuqi Chang and Qiang Feng and Xiaodong Fang and Xiaosen Guo and Min Jian and Hui Jiang and Xin Jin and Tianming Lan and Guoqing Li and Jingxiang Li and Yingrui Li and Shengmao Liu and Xiao Liu and Yao Lu and Xuedi Ma and Meifang Tang and Bo Wang and Guangbiao Wang and Honglong Wu and Renhua Wu and Xun Xu and Ye Yin and Dandan Zhang and Wenwei Zhang and Jiao Zhao and Meiru Zhao and Xiaole Zheng and Namrata Gupta and Neda Gharani and Toji, {Lorraine H.} and Gerry, {Norman P.} and Resch, {Alissa M.} and Jonathan Barker and Laura Clarke and Laurent Gil and Hunt, {Sarah E.} and Gavin Kelman and Eugene Kulesha and Rasko Leinonen and McLaren, {William M.} and Rajesh Radhakrishnan and Asier Roa and Dmitriy Smirnov and Smith, {Richard E.} and Ian Streeter and Anja Thormann and Iliana Toneva and Brendan Vaughan and Xiangqun Zheng-Bradley and Russell Grocock and Sean Humphray and Terena James and Zoya Kingsbury and Ralf Sudbrak and Albrecht, {Marcus W.} and Amstislavskiy, {Vyacheslav S.} and Borodina, {Tatiana A.} and Matthias Lienhard and Florian Mertes and Marc Sultan and Bernd Timmermann and Yaspo, {Marie Laure} and Lucinda Fulton and Victor Ananiev and Zinaida Belaia and Dimitriy Beloslyudtsev and Nathan Bouk and Chao Chen and Deanna Church and Robert Cohen and Charles Cook and John Garner and Timothy Hefferon and Mikhail Kimelman and Chunlei Liu and John Lopez and Peter Meric and Chris O'Sullivan and Yuri Ostapchuk and Lon Phan and Sergiy Ponomarov and Valerie Schneider and Eugene Shekhtman and Karl Sirotkin and Douglas Slotta and Hua Zhang and Senduran Balasubramaniam and John Burton and Petr Danecek and Keane, {Thomas M.} and Anja Kolb-Kokocinski and Shane McCarthy and James Stalker and Michael Quail and Davies, {Christopher J.} and Jeremy Gollub and Teresa Webster and Brant Wong and Yiping Zhan and Campbell, {Christopher L.} and Yu Kong and Anthony Marcketta and Fuli Yu and Lilian Antunes and Matthew Bainbridge and Aniko Sabo and Zhuoyi Huang and Coin, {Lachlan J.M.} and Lin Fang and Qibin Li and Zhenyu Li and Haoxiang Lin and Binghang Liu and Ruibang Luo and Haojing Shao and Yinlong Xie and Chen Ye and Chang Yu and Fan Zhang and Hancheng Zheng and Hongmei Zhu and Can Alkan and Elif Dal and Fatma Kahveci and Garrison, {Erik P.} and Deniz Kural and Lee, {Wan Ping} and Leong, {Wen Fung} and Michael Stromberg and Ward, {Alistair N.} and Jiantao Wu and Mengyao Zhang and Daly, {Mark J.} and DePristo, {Mark A.} and Handsaker, {Robert E.} and Eric Banks and Gaurav Bhatia and {Del Angel}, Guillermo and Giulio Genovese and Heng Li and Seva Kashin and McCarroll, {Steven A.} and Nemesh, {James C.} and Poplin, {Ryan E.} and Yoon, {Seungtai C.} and Jayon Lihm and Vladimir Makarov and Srikanth Gottipati and Alon Keinan and Rodriguez-Flores, {Juan L.} and Tobias Rausch and Fritz, {Markus H.} and St{\"u}tz, {Adrian M.} and Kathryn Beal and Avik Datta and Javier Herrero and Ritchie, {Graham R.S.} and Daniel Zerbino and Sabeti, {Pardis C.} and Ilya Shlyakhter and Schaffner, {Stephen F.} and Joseph Vitti and Cooper, {David N.} and Ball, {Edward V.} and Stenson, {Peter D.} and Bret Barnes and Markus Bauer and Cheetham, {R. Keira} and Anthony Cox and Michael Eberle and Scott Kahn and Lisa Murray and John Peden and Richard Shaw and Kenny, {Eimear E.} and Batzer, {Mark A.} and Konkel, {Miriam K.} and Walker, {Jerilyn A.} and MacArthur, {Daniel G.} and Monkol Lek and Ralf Herwig and Li Ding and Koboldt, {Daniel C.} and David Larson and Kai Ye and Simon Gravel and Anand Swaroop and Emily Chew and Tuuli Lappalainen and Yaniv Erlich and Melissa Gymrek and Willems, {Thomas Frederick} and Simpson, {Jared T.} and Shriver, {Mark D.} and Rosenfeld, {Jeffrey A.} and Bustamante, {Carlos D.} and Montgomery, {Stephen B.} and {De La Vega}, {Francisco M.} and Byrnes, {Jake K.} and Carroll, {Andrew W.} and DeGorter, {Marianne K.} and Phil Lacroute and Maples, {Brian K.} and Martin, {Alicia R.} and Andres Moreno-Estrada and Shringarpure, {Suyash S.} and Fouad Zakharia and Eran Halperin and Yael Baran and Eliza Cerveira and Jaeho Hwang and Ankit Malhotra and Dariusz Plewczynski and Kamen Radew and Mallory Romanovitch and Chengsheng Zhang and Hyland, {Fiona C.L.} and Craig, {David W.} and Alexis Christoforides and Nils Homer and Tyler Izatt and Kurdoglu, {Ahmet A.} and Sinari, {Shripad A.} and Kevin Squire and Chunlin Xiao and Jonathan Sebat and Danny Antaki and Madhusudan Gujral and Amina Noor and Kenny Ye and Burchard, {Esteban G.} and Hernandez, {Ryan D.} and Gignoux, {Christopher R.} and David Haussler and Katzman, {Sol J.} and Kent, {W. James} and Bryan Howie and Andres Ruiz-Linares and Dermitzakis, {Emmanouil T.} and Devine, {Scott E.} and Kang, {Hyun Min} and Kidd, {Jeffrey M.} and Tom Blackwell and Sean Caron and Wei Chen and Sarah Emery and Lars Fritsche and Christian Fuchsberger and Goo Jun and Bingshan Li and Robert Lyons and Chris Scheller and Carlo Sidore and Shiya Song and Elzbieta Sliwerska and Daniel Taliun and Adrian Tan and Ryan Welch and Wing, {Mary Kate} and Xiaowei Zhan and Philip Awadalla and Alan Hodgkinson and Yun Li and Xinghua Shi and Andrew Quitadamo and Gerton Lunter and Marchini, {Jonathan L.} and Simon Myers and Claire Churchhouse and Olivier Delaneau and Anjali Gupta-Hinch and Warren Kretzschmar and Zamin Iqbal and Iain Mathieson and Androniki Menelaou and Andy Rimmer and Xifara, {Dionysia K.} and Oleksyk, {Taras K.} and Yunxin Fu and Xiaoming Liu and Momiao Xiong and Lynn Jorde and David Witherspoon and Jinchuan Xing and Browning, {Brian L.} and Browning, {Sharon R.} and Fereydoun Hormozdiari and Sudmant, {Peter H.} and Ekta Khurana and Chris Tyler-Smith and Albers, {Cornelis A.} and Qasim Ayub and Yuan Chen and Vincenza Colonna and Luke Jostins and Klaudia Walter and Yali Xue and Gerstein, {Mark B.} and Alexej Abyzov and Suganthi Balasubramanian and Jieming Chen and Declan Clarke and Yao Fu and Harmanci, {Arif O.} and Mike Jin and Donghoon Lee and Jeremy Liu and Mu, {Xinmeng Jasmine} and Jing Zhang and Yan Zhang and Chris Hartl and Khalid Shakir and Jeremiah Degenhardt and Sascha Meiers and Benjamin Raeder and Casale, {Francesco Paolo} and Oliver Stegle and Lameijer, {Eric Wubbo} and Ira Hall and Vineet Bafna and Jacob Michaelson and Gardner, {Eugene J.} and Mills, {Ryan E.} and Gargi Dayama and Ken Chen and Xian Fan and Zechen Chong and Tenghui Chen and Chaisson, {Mark J.} and John Huddleston and Maika Malig and Nelson, {Bradley J.} and Parrish, {Nicholas F.} and Ben Blackburne and Lindsay, {Sarah J.} and Zemin Ning and Yujun Zhang and Hugo Lam and Cristina Sisu and Danny Challis and Evani, {Uday S.} and James Lu and Uma Nagaswamy and Jin Yu and Wangshen Li and Lukas Habegger and Haiyuan Yu and Fiona Cunningham and Ian Dunham and Kasper Lage and Jespersen, {Jakob Berg} and Heiko Horn and Donghoon Kim and Rob Desalle and Apurva Narechania and Sayres, {Melissa A.Wilson} and Mendez, {Fernando L.} and Poznik, {G. David} and Underhill, {Peter A.} and David Mittelman and Ruby Banerjee and Maria Cerezo and Fitzgerald, {Thomas W.} and Sandra Louzada and Andrea Massaia and Fengtang Yang and Divya Kalra and Walker Hale and Xu Dan and Barnes, {Kathleen C.} and Christine Beiswanger and Hongyu Cai and Hongzhi Cao and Brenna Henn and Danielle Jones and Kaye, {Jane S.} and Alastair Kent and Angeliki Kerasidou and Rasika Mathias and Ossorio, {Pilar N.} and Michael Parker and Rotimi, {Charles N.} and Royal, {Charmaine D.} and Karla Sandoval and Yeyang Su and Zhongming Tian and Sarah Tishkoff and Marc Via and Yuhong Wang and Huanming Yang and Ling Yang and Jiayong Zhu and Walter Bodmer and Gabriel Bedoya and Zhiming Cai and Yang Gao and Jiayou Chu and Leena Peltonen and Andres Garcia-Montero and Alberto Orfao and Julie Dutil and Martinez-Cruzado, {Juan C.} and Mathias, {Rasika A.} and Anselm Hennis and Harold Watson and Colin McKenzie and Firdausi Qadri and Regina LaRocque and Xiaoyan Deng and Danny Asogun and Onikepe Folarin and Christian Happi and Omonwunmi Omoniwa and Matt Stremlau and Ridhi Tariyal and Muminatou Jallow and Joof, {Fatoumatta Sisay} and Tumani Corrah and Kirk Rockett and Dominic Kwiatkowski and Jaspal Kooner and Hien, {Tran Tinh} and Dunstan, {Sarah J.} and Nguyen ThuyHang and Richard Fonnie and Robert Garry and Lansana Kanneh and Lina Moses and John Schieffelin and Grant, {Donald S.} and Carla Gallo and Giovanni Poletti and Danish Saleheen and Asif Rasheed and Brooks, {Lisa D.} and Felsenfeld, {Adam L.} and McEwen, {Jean E.} and Yekaterina Vaydylevich and Audrey Duncanson and Michael Dunn and Schloss, {Jeffery A.}",
year = "2015",
month = "9",
day = "30",
doi = "10.1038/nature15393",
language = "English (US)",
volume = "526",
pages = "68--74",
journal = "Nature",
issn = "0028-0836",
publisher = "Nature Publishing Group",
number = "7571",

}

TY - JOUR

T1 - A global reference for human genetic variation

AU - Auton, Adam

AU - Abecasis, Gonçalo R.

AU - Altshuler, David M.

AU - Durbin, Richard M.

AU - Bentley, David R.

AU - Chakravarti, Aravinda

AU - Clark, Andrew G.

AU - Donnelly, Peter

AU - Eichler, Evan E.

AU - Flicek, Paul

AU - Gabriel, Stacey B.

AU - Gibbs, Richard A.

AU - Green, Eric D.

AU - Hurles, Matthew E.

AU - Knoppers, Bartha M.

AU - Korbel, Jan O.

AU - Lander, Eric S.

AU - Lee, Charles

AU - Lehrach, Hans

AU - Mardis, Elaine R.

AU - Marth, Gabor T.

AU - McVean, Gil A.

AU - Nickerson, Deborah A.

AU - Schmidt, Jeanette P.

AU - Sherry, Stephen T.

AU - Wang, Jun

AU - Wilson, Richard K.

AU - Boerwinkle, Eric

AU - Doddapaneni, Harsha

AU - Han, Yi

AU - Korchina, Viktoriya

AU - Kovar, Christie

AU - Lee, Sandra

AU - Muzny, Donna

AU - Reid, Jeffrey G.

AU - Zhu, Yiming

AU - Chang, Yuqi

AU - Feng, Qiang

AU - Fang, Xiaodong

AU - Guo, Xiaosen

AU - Jian, Min

AU - Jiang, Hui

AU - Jin, Xin

AU - Lan, Tianming

AU - Li, Guoqing

AU - Li, Jingxiang

AU - Li, Yingrui

AU - Liu, Shengmao

AU - Liu, Xiao

AU - Lu, Yao

AU - Ma, Xuedi

AU - Tang, Meifang

AU - Wang, Bo

AU - Wang, Guangbiao

AU - Wu, Honglong

AU - Wu, Renhua

AU - Xu, Xun

AU - Yin, Ye

AU - Zhang, Dandan

AU - Zhang, Wenwei

AU - Zhao, Jiao

AU - Zhao, Meiru

AU - Zheng, Xiaole

AU - Gupta, Namrata

AU - Gharani, Neda

AU - Toji, Lorraine H.

AU - Gerry, Norman P.

AU - Resch, Alissa M.

AU - Barker, Jonathan

AU - Clarke, Laura

AU - Gil, Laurent

AU - Hunt, Sarah E.

AU - Kelman, Gavin

AU - Kulesha, Eugene

AU - Leinonen, Rasko

AU - McLaren, William M.

AU - Radhakrishnan, Rajesh

AU - Roa, Asier

AU - Smirnov, Dmitriy

AU - Smith, Richard E.

AU - Streeter, Ian

AU - Thormann, Anja

AU - Toneva, Iliana

AU - Vaughan, Brendan

AU - Zheng-Bradley, Xiangqun

AU - Grocock, Russell

AU - Humphray, Sean

AU - James, Terena

AU - Kingsbury, Zoya

AU - Sudbrak, Ralf

AU - Albrecht, Marcus W.

AU - Amstislavskiy, Vyacheslav S.

AU - Borodina, Tatiana A.

AU - Lienhard, Matthias

AU - Mertes, Florian

AU - Sultan, Marc

AU - Timmermann, Bernd

AU - Yaspo, Marie Laure

AU - Fulton, Lucinda

AU - Ananiev, Victor

AU - Belaia, Zinaida

AU - Beloslyudtsev, Dimitriy

AU - Bouk, Nathan

AU - Chen, Chao

AU - Church, Deanna

AU - Cohen, Robert

AU - Cook, Charles

AU - Garner, John

AU - Hefferon, Timothy

AU - Kimelman, Mikhail

AU - Liu, Chunlei

AU - Lopez, John

AU - Meric, Peter

AU - O'Sullivan, Chris

AU - Ostapchuk, Yuri

AU - Phan, Lon

AU - Ponomarov, Sergiy

AU - Schneider, Valerie

AU - Shekhtman, Eugene

AU - Sirotkin, Karl

AU - Slotta, Douglas

AU - Zhang, Hua

AU - Balasubramaniam, Senduran

AU - Burton, John

AU - Danecek, Petr

AU - Keane, Thomas M.

AU - Kolb-Kokocinski, Anja

AU - McCarthy, Shane

AU - Stalker, James

AU - Quail, Michael

AU - Davies, Christopher J.

AU - Gollub, Jeremy

AU - Webster, Teresa

AU - Wong, Brant

AU - Zhan, Yiping

AU - Campbell, Christopher L.

AU - Kong, Yu

AU - Marcketta, Anthony

AU - Yu, Fuli

AU - Antunes, Lilian

AU - Bainbridge, Matthew

AU - Sabo, Aniko

AU - Huang, Zhuoyi

AU - Coin, Lachlan J.M.

AU - Fang, Lin

AU - Li, Qibin

AU - Li, Zhenyu

AU - Lin, Haoxiang

AU - Liu, Binghang

AU - Luo, Ruibang

AU - Shao, Haojing

AU - Xie, Yinlong

AU - Ye, Chen

AU - Yu, Chang

AU - Zhang, Fan

AU - Zheng, Hancheng

AU - Zhu, Hongmei

AU - Alkan, Can

AU - Dal, Elif

AU - Kahveci, Fatma

AU - Garrison, Erik P.

AU - Kural, Deniz

AU - Lee, Wan Ping

AU - Leong, Wen Fung

AU - Stromberg, Michael

AU - Ward, Alistair N.

AU - Wu, Jiantao

AU - Zhang, Mengyao

AU - Daly, Mark J.

AU - DePristo, Mark A.

AU - Handsaker, Robert E.

AU - Banks, Eric

AU - Bhatia, Gaurav

AU - Del Angel, Guillermo

AU - Genovese, Giulio

AU - Li, Heng

AU - Kashin, Seva

AU - McCarroll, Steven A.

AU - Nemesh, James C.

AU - Poplin, Ryan E.

AU - Yoon, Seungtai C.

AU - Lihm, Jayon

AU - Makarov, Vladimir

AU - Gottipati, Srikanth

AU - Keinan, Alon

AU - Rodriguez-Flores, Juan L.

AU - Rausch, Tobias

AU - Fritz, Markus H.

AU - Stütz, Adrian M.

AU - Beal, Kathryn

AU - Datta, Avik

AU - Herrero, Javier

AU - Ritchie, Graham R.S.

AU - Zerbino, Daniel

AU - Sabeti, Pardis C.

AU - Shlyakhter, Ilya

AU - Schaffner, Stephen F.

AU - Vitti, Joseph

AU - Cooper, David N.

AU - Ball, Edward V.

AU - Stenson, Peter D.

AU - Barnes, Bret

AU - Bauer, Markus

AU - Cheetham, R. Keira

AU - Cox, Anthony

AU - Eberle, Michael

AU - Kahn, Scott

AU - Murray, Lisa

AU - Peden, John

AU - Shaw, Richard

AU - Kenny, Eimear E.

AU - Batzer, Mark A.

AU - Konkel, Miriam K.

AU - Walker, Jerilyn A.

AU - MacArthur, Daniel G.

AU - Lek, Monkol

AU - Herwig, Ralf

AU - Ding, Li

AU - Koboldt, Daniel C.

AU - Larson, David

AU - Ye, Kai

AU - Gravel, Simon

AU - Swaroop, Anand

AU - Chew, Emily

AU - Lappalainen, Tuuli

AU - Erlich, Yaniv

AU - Gymrek, Melissa

AU - Willems, Thomas Frederick

AU - Simpson, Jared T.

AU - Shriver, Mark D.

AU - Rosenfeld, Jeffrey A.

AU - Bustamante, Carlos D.

AU - Montgomery, Stephen B.

AU - De La Vega, Francisco M.

AU - Byrnes, Jake K.

AU - Carroll, Andrew W.

AU - DeGorter, Marianne K.

AU - Lacroute, Phil

AU - Maples, Brian K.

AU - Martin, Alicia R.

AU - Moreno-Estrada, Andres

AU - Shringarpure, Suyash S.

AU - Zakharia, Fouad

AU - Halperin, Eran

AU - Baran, Yael

AU - Cerveira, Eliza

AU - Hwang, Jaeho

AU - Malhotra, Ankit

AU - Plewczynski, Dariusz

AU - Radew, Kamen

AU - Romanovitch, Mallory

AU - Zhang, Chengsheng

AU - Hyland, Fiona C.L.

AU - Craig, David W.

AU - Christoforides, Alexis

AU - Homer, Nils

AU - Izatt, Tyler

AU - Kurdoglu, Ahmet A.

AU - Sinari, Shripad A.

AU - Squire, Kevin

AU - Xiao, Chunlin

AU - Sebat, Jonathan

AU - Antaki, Danny

AU - Gujral, Madhusudan

AU - Noor, Amina

AU - Ye, Kenny

AU - Burchard, Esteban G.

AU - Hernandez, Ryan D.

AU - Gignoux, Christopher R.

AU - Haussler, David

AU - Katzman, Sol J.

AU - Kent, W. James

AU - Howie, Bryan

AU - Ruiz-Linares, Andres

AU - Dermitzakis, Emmanouil T.

AU - Devine, Scott E.

AU - Kang, Hyun Min

AU - Kidd, Jeffrey M.

AU - Blackwell, Tom

AU - Caron, Sean

AU - Chen, Wei

AU - Emery, Sarah

AU - Fritsche, Lars

AU - Fuchsberger, Christian

AU - Jun, Goo

AU - Li, Bingshan

AU - Lyons, Robert

AU - Scheller, Chris

AU - Sidore, Carlo

AU - Song, Shiya

AU - Sliwerska, Elzbieta

AU - Taliun, Daniel

AU - Tan, Adrian

AU - Welch, Ryan

AU - Wing, Mary Kate

AU - Zhan, Xiaowei

AU - Awadalla, Philip

AU - Hodgkinson, Alan

AU - Li, Yun

AU - Shi, Xinghua

AU - Quitadamo, Andrew

AU - Lunter, Gerton

AU - Marchini, Jonathan L.

AU - Myers, Simon

AU - Churchhouse, Claire

AU - Delaneau, Olivier

AU - Gupta-Hinch, Anjali

AU - Kretzschmar, Warren

AU - Iqbal, Zamin

AU - Mathieson, Iain

AU - Menelaou, Androniki

AU - Rimmer, Andy

AU - Xifara, Dionysia K.

AU - Oleksyk, Taras K.

AU - Fu, Yunxin

AU - Liu, Xiaoming

AU - Xiong, Momiao

AU - Jorde, Lynn

AU - Witherspoon, David

AU - Xing, Jinchuan

AU - Browning, Brian L.

AU - Browning, Sharon R.

AU - Hormozdiari, Fereydoun

AU - Sudmant, Peter H.

AU - Khurana, Ekta

AU - Tyler-Smith, Chris

AU - Albers, Cornelis A.

AU - Ayub, Qasim

AU - Chen, Yuan

AU - Colonna, Vincenza

AU - Jostins, Luke

AU - Walter, Klaudia

AU - Xue, Yali

AU - Gerstein, Mark B.

AU - Abyzov, Alexej

AU - Balasubramanian, Suganthi

AU - Chen, Jieming

AU - Clarke, Declan

AU - Fu, Yao

AU - Harmanci, Arif O.

AU - Jin, Mike

AU - Lee, Donghoon

AU - Liu, Jeremy

AU - Mu, Xinmeng Jasmine

AU - Zhang, Jing

AU - Zhang, Yan

AU - Hartl, Chris

AU - Shakir, Khalid

AU - Degenhardt, Jeremiah

AU - Meiers, Sascha

AU - Raeder, Benjamin

AU - Casale, Francesco Paolo

AU - Stegle, Oliver

AU - Lameijer, Eric Wubbo

AU - Hall, Ira

AU - Bafna, Vineet

AU - Michaelson, Jacob

AU - Gardner, Eugene J.

AU - Mills, Ryan E.

AU - Dayama, Gargi

AU - Chen, Ken

AU - Fan, Xian

AU - Chong, Zechen

AU - Chen, Tenghui

AU - Chaisson, Mark J.

AU - Huddleston, John

AU - Malig, Maika

AU - Nelson, Bradley J.

AU - Parrish, Nicholas F.

AU - Blackburne, Ben

AU - Lindsay, Sarah J.

AU - Ning, Zemin

AU - Zhang, Yujun

AU - Lam, Hugo

AU - Sisu, Cristina

AU - Challis, Danny

AU - Evani, Uday S.

AU - Lu, James

AU - Nagaswamy, Uma

AU - Yu, Jin

AU - Li, Wangshen

AU - Habegger, Lukas

AU - Yu, Haiyuan

AU - Cunningham, Fiona

AU - Dunham, Ian

AU - Lage, Kasper

AU - Jespersen, Jakob Berg

AU - Horn, Heiko

AU - Kim, Donghoon

AU - Desalle, Rob

AU - Narechania, Apurva

AU - Sayres, Melissa A.Wilson

AU - Mendez, Fernando L.

AU - Poznik, G. David

AU - Underhill, Peter A.

AU - Mittelman, David

AU - Banerjee, Ruby

AU - Cerezo, Maria

AU - Fitzgerald, Thomas W.

AU - Louzada, Sandra

AU - Massaia, Andrea

AU - Yang, Fengtang

AU - Kalra, Divya

AU - Hale, Walker

AU - Dan, Xu

AU - Barnes, Kathleen C.

AU - Beiswanger, Christine

AU - Cai, Hongyu

AU - Cao, Hongzhi

AU - Henn, Brenna

AU - Jones, Danielle

AU - Kaye, Jane S.

AU - Kent, Alastair

AU - Kerasidou, Angeliki

AU - Mathias, Rasika

AU - Ossorio, Pilar N.

AU - Parker, Michael

AU - Rotimi, Charles N.

AU - Royal, Charmaine D.

AU - Sandoval, Karla

AU - Su, Yeyang

AU - Tian, Zhongming

AU - Tishkoff, Sarah

AU - Via, Marc

AU - Wang, Yuhong

AU - Yang, Huanming

AU - Yang, Ling

AU - Zhu, Jiayong

AU - Bodmer, Walter

AU - Bedoya, Gabriel

AU - Cai, Zhiming

AU - Gao, Yang

AU - Chu, Jiayou

AU - Peltonen, Leena

AU - Garcia-Montero, Andres

AU - Orfao, Alberto

AU - Dutil, Julie

AU - Martinez-Cruzado, Juan C.

AU - Mathias, Rasika A.

AU - Hennis, Anselm

AU - Watson, Harold

AU - McKenzie, Colin

AU - Qadri, Firdausi

AU - LaRocque, Regina

AU - Deng, Xiaoyan

AU - Asogun, Danny

AU - Folarin, Onikepe

AU - Happi, Christian

AU - Omoniwa, Omonwunmi

AU - Stremlau, Matt

AU - Tariyal, Ridhi

AU - Jallow, Muminatou

AU - Joof, Fatoumatta Sisay

AU - Corrah, Tumani

AU - Rockett, Kirk

AU - Kwiatkowski, Dominic

AU - Kooner, Jaspal

AU - Hien, Tran Tinh

AU - Dunstan, Sarah J.

AU - ThuyHang, Nguyen

AU - Fonnie, Richard

AU - Garry, Robert

AU - Kanneh, Lansana

AU - Moses, Lina

AU - Schieffelin, John

AU - Grant, Donald S.

AU - Gallo, Carla

AU - Poletti, Giovanni

AU - Saleheen, Danish

AU - Rasheed, Asif

AU - Brooks, Lisa D.

AU - Felsenfeld, Adam L.

AU - McEwen, Jean E.

AU - Vaydylevich, Yekaterina

AU - Duncanson, Audrey

AU - Dunn, Michael

AU - Schloss, Jeffery A.

PY - 2015/9/30

Y1 - 2015/9/30

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84943171338&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84943171338&partnerID=8YFLogxK

U2 - 10.1038/nature15393

DO - 10.1038/nature15393

M3 - Review article

C2 - 26432245

AN - SCOPUS:84943171338

VL - 526

SP - 68

EP - 74

JO - Nature

JF - Nature

SN - 0028-0836

IS - 7571

ER -