A global reference for human genetic variation
Adam Auton, Gonçalo R. Abecasis, David Altshuler, Richard Durbin, David Bentley, Aravinda Chakravarti, Andrew G. Clark, Peter Donnelly, Evan E. Eichler, Paul Flicek, Stacey Gabriel, Richard A. Gibbs, Eric D. Green, Matthew E. Hurles, Bartha Maria Knoppers, Jan O. Korbel, Eric S. Lander, Charles Lee, Hans Lehrach, Elaine R. Mardis, Gábor Marth, Gil McVean, Deborah A. Nickerson, Jeanette P. Schmidt, Stephen T. Sherry, Jun Wang, Richard K. Wilson, Eric Boerwinkle, HarshaVardhan Doddapaneni, Yi Han, Viktoriya Korchina, Christie Kovar, Charles Lee, Donna M. 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 Resch, Juliet N. Barker, Laura Clarke, Laurent Gil, Sarah Hunt, Gavin Kelman, Eugene Kulesha, Rasko Leinonen, William 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 Amstislavskiy, Tatiana Borodina, Matthias Lienhard, Florian Mertes, Marc Sultan, Bernd Timmermann, Marie‐Laure Yaspo, Lucinda Fulton, Robert S. Fulton, Victor Ananiev, Zinaida Belaia, Dimitriy Beloslyudtsev, Nathan Bouk, Chao Chen, Deanna M. Church, Robert Cohen, Charles Cook, John Garner, Timothy Hefferon, Mikhail Kimelman, Liu Chun-Lei, John Lopez, Peter Meric, Chris O’Sullivan, Yuri Ostapchuk, Lon Phan, Sergiy Ponomarov, Valérie Schneider, Eugene Shekhtman, Karl Sirotkin, Douglas J. Slotta, Hua Zhang, Senduran Balasubramaniam, John H. Burton, Petr Danecek, Thomas Keane, Anja Kolb‐Kokocinski, Shane McCarthy, James Stalker, Michael A. Quail, Christopher J. Davies, Jeremy Gollub, Teresa Webster, Brant Wong, Yiping Zhan, Christopher Campbell, Yu Kong, Anthony Marcketta, Fuli Yu, Lilian Antunes, Matthew N. Bainbridge, Aniko Sabo, Zhuoyi Huang, Lachlan 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 Garrison, Deniz Kural, Wan‐Ping Lee, Wen Fung Leong, Michael P. Strömberg, Alistair 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 Nemesh, Ryan Poplin, Seungtai Yoon, Jayon Lihm, Vladimir Makarov, Srikanth Gottipati, Alon Keinan, Juan L. Rodríguez-Flores, Tobias Rausch, Markus H. Fritz, Adrian M. Stütz, Kathryn Beal, Avik Datta, Javier Herrero, Graham R. S. Ritchie, Daniel R. Zerbino, Pardis C. Sabeti, Ilya Shlyakhter, S. F. Schaffner, Joseph J. Vitti, D.N. Cooper, Edward V. Ball, Peter D. Stenson, Bret Barnes, Markus Bauer, R. Keira Cheetham, Anthony J. Cox, Michael A. Eberle, Scott D. Kahn, Lisa Murray, John F. Peden, Richard J. 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 E. Larson, Kai Ye, Simon Gravel, Anand Swaroop, Emily Y. Chew, Tuuli Lappalainen, Yaniv Erlich, Melissa Gymrek, Thomas Willems, Jared T. Simpson, Mark D. Shriver, Jeffrey Rosenfeld, Carlos D. Bustamante, Stephen B. Montgomery, Francisco M. De La Vega, Jake Byrnes, Andrew Carroll, Marianne K. DeGorter, Phil Lacroute, Brian K. Maples, Alicia R. Martin, Andrés Moreno‐Estrada, Suyash Shringarpure, Fouad Zakharia, Eran Halperin, Yael Baran, Eliza Cerveira, Jaeho Hwang, Ankit Malhotra, Dariusz Plewczyński, Kamen Radew, Mallory Romanovitch, Chengsheng Zhang, Fiona Hyland, David W. Craig, Alexis Christoforides, Nils Homer, Tyler Izatt, Ahmet Kurdoglu, Shripad 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 Katzman, W. James Kent, Bryan Howie, Andrés Ruiz‐Linares, Emmanouil T. Dermitzakis, Scott E. Devine, Hyun Min Kang, Jeffrey M. Kidd, Tom Blackwell, Sean Caron, Wei Chen, Sarah B. Emery, Lars G. Fritsche, Christian Fuchsberger, Goo Jun, Bingshan Li, Robert Lyons, Chris Scheller, Carlo Sidore, Shiya Song, Elżbieta Śliwerska, Daniel Taliun, Adrian Tan, Ryan Welch, Mary Kate Wing, Xiaowei Zhan, Philip Awadalla, Alan Hodgkinson, Yun Li, Xinghua Shi, Andrew Quitadamo, Gerton Lunter, Jonathan Marchini, Simon Myers, Claire Churchhouse, Olivier Delaneau, Anjali Gupta Hinch, Warren W. Kretzschmar, Zamin Iqbal, Iain Mathieson, Androniki Menelaou, Andy Rimmer, Dionysia K. Xifara, Tarás K. Oleksyk, Yun‐Xin Fu, Xiaoming Liu, Momiao Xiong, Lynn B. Jorde, David J. 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 Gerstein, Alexej Abyzov, Suganthi Balasubramanian, Jieming Chen, Declan Clarke, Yao Fu, Arif Harmanci, Xin Jin, Donghoon Lee, Jeremy Liu, Xinmeng Jasmine Mu, Jing Zhang, Yan Zhang, Christopher Hartl, Khalid Shakir, Jeremiah D. Degenhardt, Sascha Meiers, Benjamin Raeder, Francesco Paolo Casale, Oliver Stegle, Eric-Wubbo Lameijer, Ira M. Hall, Vineet Bafna, Jacob J. Michaelson, Eugene J. Gardner, Ryan E. Mills, Gargi Dayama, Ken Chen, Xian Fan, Zechen Chong, Tenghui Chen, Mark Chaisson, John Huddleston, Maika Malig, Bradley J. Nelson, Nicholas F. Parrish, Ben Blackburne, Sarah Lindsay, Zemin Ning, Goo Jun, Hugo Y. K. Lam, Cristina Sisu, Danny Challis, Uday S. Evani, James T. 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. Méndez, G. David Poznik, Peter A. Underhill, Lachlan Coin, David Mittelman, Ruby Banerjee, María Cerezo, Thomas W. Fitzgerald, Sandra Louzada, Andrea Massaia, Graham R. S. Ritchie, Fengtang Yang, Divya Kalra, Walker Hale, Xu Dan, Kathleen C. Barnes, Christine Beiswanger, Hongyu Cai, Hongzhi Cao, Brenna M. Henn, D. A. Jones, Jane Kaye, Alastair Kent, Angeliki Kerasidou, Rasika A. Mathias, Pilar N. Ossorio, Michael Parker, Charles N. Rotimi, Charmaine Royal, Karla Sandoval, Yeyang Su, Zhongming Tian, Sarah A. Tishkoff, Marc Vía, Yuhong Wang, Huanming Yang, Ling Yang, Jiayong Zhu, Walter F. Bodmer, Gabriel Bedoya, Zhiming Cai, Yang Gao, Jiayou Chu, Leena Peltonen, Andrés C. García‐Montero, Alberto Órfão, Julie Dutil, Juan Carlos Martínez‐Cruzado, Rasika A. Mathias, Anselm Hennis, Harold Watson, Colin A. McKenzie, Firdausi Qadri, Regina C. 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 S. Kooner, Tran Tinh Hien, Sarah J. Dunstan, Nguyen Thuy Hang, Richard Fonnie, Robert F. Garry, Lansana Kanneh, Lina Moses, John S. Schieffelin, Donald S. Grant, Carla Gallo, Giovanni Poletti, Danish Saleheen, Asif Rasheed, Heng Li, Adam L. Felsenfeld, Jean E. McEwen, Yekaterina Vaydylevich, Audrey Duncanson, Michael Dunn, Jeffery A. Schloss
Civil War Book Review
October 1, 2015
Cited by 612Open Access
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.
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