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by Gil A. McVean, David M. Altshuler Co-Chair, Richard M. Durbin Co-Chair, et al.Gonçalo R. Abecasis, 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. Mardis, Gabor T. Marth, Gil A. McVean, Deborah A. Nickerson, Jeanette P. Schmidt, Stephen T. Sherry, Jun Wang, Richard K. Wilson, Richard A. Gibbs Principal Investigator, Huyen Dinh, Christie Kovar, Sandra Lee, Lora Lewis, Donna Muzny, Jeff Reid, Min Wang, Jun Wang Principal Investigator, Xiaodong Fang, Xiaosen Guo, Min Jian, Hui Jiang, Xin Jin, Guoqing Li, Jingxiang Li, Yingrui Li, Zhuo Li, Xiao Liu, Yao Lu, Xuedi Ma, Zhe Su, Shuaishuai Tai, Meifang Tang, Bo Wang, Guangbiao Wang, Honglong Wu, Renhua Wu, Ye Yin, Wenwei Zhang, Jiao Zhao, Meiru Zhao, Xiaole Zheng, Yan Zhou, Eric S. Lander Principal Investigator, David M. Altshuler, Stacey B. Gabriel Co-Chair, Namrata Gupta, Paul Flicek Principal Investigator, Laura Clarke, Rasko Leinonen, Richard E. Smith, Xiangqun Zheng-Bradley, David R. Bentley Principal Investigator, Russell Grocock, Sean Humphray, Terena James, Zoya Kingsbury, Hans Lehrach Principal Investigator, Ralf Sudbrak Project Leader, Marcus W. Albrecht, Vyacheslav S. Amstislavskiy, Tatiana A. Borodina, Matthias Lienhard, Florian Mertes, Marc Sultan, Bernd Timmermann, Marie-Laure Yaspo, Stephen T. Sherry Principal Investigator, Gil A. McVean Principal Investigator, Elaine R. Mardis Co-Principal Investigator Co-Chair, Richard K. Wilson Co-Principal Investigator, Lucinda Fulton, Robert Fulton, George M. Weinstock, Richard M. Durbin Principal Investigator, Senduran Balasubramaniam, John Burton, Petr Danecek, Thomas M. Keane, Anja Kolb-Kokocinski, Shane McCarthy, James Stalker, Michael Quail, Jeanette P. Schmidt Principal Investigator, Christopher J. Davies, Jeremy Gollub, Teresa Webster, Brant Wong, Yiping Zhan, Adam Auton Principal Investigator, Richard A. Gibbs Principal Investigator, Fuli Yu Project Leader, Matthew Bainbridge, Danny Challis, Uday S. Evani, James Lu, Donna Muzny, Uma Nagaswamy, Jeff Reid, Aniko Sabo, Yi Wang, Jin Yu, Jun Wang Principal Investigator, Lachlan J. M. Coin, Lin Fang, Xiaosen Guo, Xin Jin, Guoqing Li, Qibin Li, Yingrui Li, Zhenyu Li, Haoxiang Lin, Binghang Liu, Ruibang Luo, Nan Qin, Haojing Shao, Bingqiang Wang, Yinlong Xie, Chen Ye, Chang Yu, Fan Zhang, Hancheng Zheng, Hongmei Zhu, Gabor T. Marth Principal Investigator, Erik P. Garrison, Deniz Kural, Wan-Ping Lee, Wen Fung Leong, Alistair N. Ward, Jiantao Wu, Mengyao Zhang, Charles Lee Principal Investigator, Lauren Griffin, Chih-Heng Hsieh, Ryan E. Mills, Xinghua Shi, Marcin von Grotthuss, Chengsheng Zhang, Mark J. Daly Principal Investigator, Mark A. DePristo Project Leader, David M. Altshuler, Eric Banks, Gaurav Bhatia, Mauricio O. Carneiro, Guillermo del Angel, Stacey B. Gabriel, Giulio Genovese, Namrata Gupta, Robert E. Handsaker, Chris Hartl, Eric S. Lander, Steven A. McCarroll, James C. Nemesh, Ryan E. Poplin, Stephen F. Schaffner, Khalid Shakir, Seungtai C. Yoon Principal Investigator, Jayon Lihm, Vladimir Makarov, Hanjun Jin Principal Investigator, Wook Kim, Ki Cheol Kim, Jan O. Korbel Principal Investigator, Tobias Rausch, Paul Flicek Principal Investigator, Kathryn Beal, Laura Clarke, Fiona Cunningham, Javier Herrero, William M. McLaren, Graham R. S. Ritchie, Richard E. Smith, Xiangqun Zheng-Bradley, Andrew G. Clark Principal Investigator, Srikanth Gottipati, Alon Keinan, Juan L. Rodriguez-Flores, Pardis C. Sabeti Principal Investigator, Sharon R. Grossman, Shervin Tabrizi, Ridhi Tariyal, David N. Cooper Principal Investigator, Edward V. Ball, Peter D. Stenson, David R. Bentley Principal Investigator, Bret Barnes, Markus Bauer, R. Keira Cheetham, Tony Cox, Michael Eberle, Sean Humphray, Scott Kahn, Lisa Murray, John Peden, Richard Shaw, Kai Ye Principal Investigator, Mark A. Batzer Principal Investigator, Miriam K. Konkel, Jerilyn A. Walker, Daniel G. MacArthur Principal Investigator, Monkol Lek, Sudbrak (Project Leader), Vyacheslav S. Amstislavskiy, Ralf Herwig, Mark D. Shriver Principal Investigator, Carlos D. Bustamante Principal Investigator, Jake K. Byrnes, Francisco M. De La Vega, Simon Gravel, Eimear E. Kenny, Jeffrey M. Kidd, Phil Lacroute, Brian K. Maples, Andres Moreno-Estrada, Fouad Zakharia, Eran Halperin Principal Investigator, Yael Baran, David W. Craig Principal Investigator, Alexis Christoforides, Nils Homer, Tyler Izatt, Ahmet A. Kurdoglu, Shripad A. Sinari, Kevin Squire, Stephen T. Sherry Principal Investigator, Chunlin Xiao, Jonathan Sebat Principal Investigator, Vineet Bafna, Kenny Ye, Esteban G. Burchard Principal Investigator, Ryan D. Hernandez Principal Investigator, Christopher R. Gignoux, David Haussler Principal Investigator, Sol J. Katzman, W. James Kent, Bryan Howie, Andres Ruiz-Linares Principal Investigator, Emmanouil T. Dermitzakis Principal Investigator, Tuuli Lappalainen, Scott E. Devine Principal Investigator, Xinyue Liu, Ankit Maroo, Luke J. Tallon, Jeffrey A. Rosenfeld Principal Investigator, Leslie P. Michelson, Gonçalo R. Abecasis Principal Investigator Co-Chair, Hyun Min Kang Project Leader, Paul Anderson, Andrea Angius, Abigail Bigham, Tom Blackwell, Fabio Busonero, Francesco Cucca, Christian Fuchsberger, Chris Jones, Goo Jun, Yun Li, Robert Lyons, Andrea Maschio, Eleonora Porcu, Fred Reinier, Serena Sanna, David Schlessinger, Carlo Sidore, Adrian Tan, Mary Kate Trost, Philip Awadalla Principal Investigator, Alan Hodgkinson, Gerton Lunter Principal Investigator, Gil A. McVean Principal Investigator Co-Chair, Jonathan L. Marchini Principal Investigator, Simon Myers Principal Investigator, Claire Churchhouse, Olivier Delaneau, Anjali Gupta-Hinch, Zamin Iqbal, Iain Mathieson, Andy Rimmer, Dionysia K. Xifara, Taras K. Oleksyk Principal Investigator, Yunxin Fu Principal Investigator, Xiaoming Liu, Momiao Xiong, Lynn Jorde Principal Investigator, David Witherspoon, Jinchuan Xing, Evan E. Eichler Principal Investigator, Brian L. Browning Principal Investigator, Can Alkan, Iman Hajirasouliha, Fereydoun Hormozdiari, Arthur Ko, Peter H. Sudmant, Elaine R. Mardis Co-Principal Investigator, Ken Chen, Asif Chinwalla, Li Ding, David Dooling, Daniel C. Koboldt, Michael D. McLellan, John W. Wallis, Michael C. Wendl, Qunyuan Zhang, Richard M. Durbin Principal Investigator, Matthew E. Hurles Principal Investigator, Cornelis A. Albers, Qasim Ayub, Senduran Balasubramaniam, Yuan Chen, Alison J. Coffey, Vincenza Colonna, Petr Danecek, Ni Huang, Luke Jostins, Thomas M. Keane, Heng Li, Shane McCarthy, Aylwyn Scally, James Stalker, Klaudia Walter, Yali Xue, Yujun Zhang, Mark B. Gerstein Principal Investigator, Alexej Abyzov, Suganthi Balasubramanian, Jieming Chen, Declan Clarke, Yao Fu, Lukas Habegger, Arif O. Harmanci, Mike Jin, Ekta Khurana, Xinmeng Jasmine Mu, Cristina Sisu, Yingrui Li, Ruibang Luo, Hongmei Zhu, Charles Lee Principal Investigator Co-Chair, Lauren Griffin, Chih-Heng Hsieh, Ryan E. Mills, Xinghua Shi, Marcin von Grotthuss, Chengsheng Zhang, Gabor T. Marth Principal Investigator, Erik P. Garrison, Deniz Kural, Wan-Ping Lee, Alistair N. Ward, Jiantao Wu, Mengyao Zhang, Steven A. McCarroll Project Leader, David M. Altshuler, Eric Banks, Guillermo del Angel, Giulio Genovese, Robert E. Handsaker, Chris Hartl, James C. Nemesh, Khalid Shakir, Seungtai C. Yoon Principal Investigator, Jayon Lihm, Vladimir Makarov, Jeremiah Degenhardt, Paul Flicek Principal Investigator, Laura Clarke, Richard E. Smith, Xiangqun Zheng-Bradley, Jan O. Korbel Principal Investigator Co-Chair, Tobias Rausch, Adrian M. Stütz, David R. Bentley Principal Investigator, Bret Barnes, R. Keira Cheetham, Michael Eberle, Sean Humphray, Scott Kahn, Lisa Murray, Richard Shaw, Kai Ye Principal Investigator, Mark A. Batzer Principal Investigator, Miriam K. Konkel, Jerilyn A. Walker, Phil Lacroute, David W. Craig Principal Investigator, Nils Homer, Deanna Church, Chunlin Xiao, Jonathan Sebat Principal Investigator, Vineet Bafna, Jacob J. Michaelson, Kenny Ye, Scott E. Devine Principal Investigator, Xinyue Liu, Ankit Maroo, Luke J. Tallon, Gerton Lunter Principal Investigator, Gil A. McVean Principal Investigator, Zamin Iqbal, David Witherspoon, Jinchuan Xing, Evan E. Eichler Principal Investigator Co-Chair, Can Alkan, Iman Hajirasouliha, Fereydoun Hormozdiari, Arthur Ko, Peter H. Sudmant, Ken Chen, Asif Chinwalla, Li Ding, Michael D. McLellan, John W. Wallis, Matthew E. Hurles Principal Investigator Co-Chair, Ben Blackburne, Heng Li, Sarah J. Lindsay, Zemin Ning, Aylwyn Scally, Klaudia Walter, Yujun Zhang, Mark B. Gerstein Principal Investigator, Alexej Abyzov, Jieming Chen, Declan Clarke, Ekta Khurana, Xinmeng Jasmine Mu, Cristina Sisu, Richard A. Gibbs Principal Investigator Co-Chair, Fuli Yu Project Leader, Matthew Bainbridge, Danny Challis, Uday S. Evani, Christie Kovar, Lora Lewis, James Lu, Donna Muzny, Uma Nagaswamy, Jeff Reid, Aniko Sabo, Jin Yu, Xiaosen Guo, Yingrui Li, Renhua Wu, Gabor T. Marth Principal Investigator Co-Chair, Erik P. Garrison, Wen Fung Leong, Alistair N. Ward, Guillermo del Angel, Mark A. DePristo, Stacey B. Gabriel, Namrata Gupta, Chris Hartl, Ryan E. Poplin, Andrew G. Clark Principal Investigator, Juan L. Rodriguez-Flores, Paul Flicek Principal Investigator, Laura Clarke, Richard E. Smith, Xiangqun Zheng-Bradley, Daniel G. MacArthur Principal Investigator, Carlos D. Bustamante Principal Investigator, Simon Gravel, David W. Craig Principal Investigator, Alexis Christoforides, Nils Homer, Tyler Izatt, Stephen T. Sherry Principal Investigator, Chunlin Xiao, Emmanouil T. Dermitzakis Principal Investigator, Gonçalo R. Abecasis Principal Investigator, Hyun Min Kang, Gil A. McVean Principal Investigator, Elaine R. Mardis Principal Investigator, David Dooling, Lucinda Fulton, Robert Fulton, Daniel C. Koboldt, Richard M. Durbin Principal Investigator, Senduran Balasubramaniam, Thomas M. Keane, Shane McCarthy, James Stalker, Mark B. Gerstein Principal Investigator, Suganthi Balasubramanian, Lukas Habegger, Erik P. Garrison, Richard A. Gibbs Principal Investigator, Matthew Bainbridge, Donna Muzny, Fuli Yu, Jin Yu, Guillermo del Angel, Robert E. Handsaker, Vladimir Makarov, Juan L. Rodriguez-Flores, Hanjun Jin Principal Investigator, Wook Kim, Ki Cheol Kim, Paul Flicek Principal Investigator, Kathryn Beal, Laura Clarke, Fiona Cunningham, Javier Herrero, William M. McLaren, Graham R. S. Ritchie, Xiangqun Zheng-Bradley, Shervin Tabrizi, Daniel G. MacArthur Principal Investigator, Monkol Lek, Carlos D. Bustamante Principal Investigator, Francisco M. De La Vega, David W. Craig Principal Investigator, Ahmet A. Kurdoglu, Tuuli Lappalainen, Jeffrey A. Rosenfeld Principal Investigator, Leslie P. Michelson, Philip Awadalla Principal Investigator, Alan Hodgkinson, Gil A. McVean Principal Investigator, Ken Chen, Yuan Chen, Vincenza Colonna, Adam Frankish, Jennifer Harrow, Yali Xue, Mark B. Gerstein Principal Investigator Co-Chair, Alexej Abyzov, Suganthi Balasubramanian, Jieming Chen, Declan Clarke, Yao Fu, Arif O. Harmanci, Mike Jin, Ekta Khurana, Xinmeng Jasmine Mu, Cristina Sisu, Richard A. Gibbs Principal Investigator, Gerald Fowler, Walker Hale, Divya Kalra, Christie Kovar, Donna Muzny, Jeff Reid, Jun Wang Principal Investigator, Xiaosen Guo, Guoqing Li, Yingrui Li, Xiaole Zheng, David M. Altshuler, Paul Flicek Principal Investigator Co-Chair, Laura Clarke Project Leader, Jonathan Barker, Gavin Kelman, Eugene Kulesha, Rasko Leinonen, William M. McLaren, Rajesh Radhakrishnan, Asier Roa, Dmitriy Smirnov, Richard E. Smith, Ian Streeter, Iliana Toneva, Brendan Vaughan, Xiangqun Zheng-Bradley, David R. Bentley Principal Investigator, Tony Cox, Sean Humphray, Scott Kahn, Ralf Sudbrak Project Leader, Marcus W. Albrecht, Matthias Lienhard, David W. Craig Principal Investigator, Tyler Izatt, Ahmet A. Kurdoglu, Stephen T. Sherry Principal Investigator Co-Chair, 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, Chunlin Xiao, Hua Zhang, David Haussler Principal Investigator, Gonçalo R. Abecasis Principal Investigator, Gil A. McVean Principal Investigator, Can Alkan, Arthur Ko, David Dooling, Richard M. Durbin Principal Investigator, Senduran Balasubramaniam, Thomas M. Keane, Shane McCarthy, James Stalker, Aravinda Chakravarti Co-Chair, Bartha M. Knoppers Co-Chair, Gonçalo R. Abecasis, Kathleen C. Barnes, Christine Beiswanger, Esteban G. Burchard, Carlos D. Bustamante, Hongyu Cai, Hongzhi Cao, Richard M. Durbin, Neda Gharani, Richard A. Gibbs, Christopher R. Gignoux, Simon Gravel, Brenna Henn, Danielle Jones, Lynn Jorde, Jane S. Kaye, Alon Keinan, Alastair Kent, Angeliki Kerasidou, Yingrui Li, Rasika Mathias, Gil A. McVean, Andres Moreno-Estrada, Pilar N. Ossorio, Michael Parker, David Reich, Charles N. Rotimi, Charmaine D. Royal, Karla Sandoval, Yeyang Su, Ralf Sudbrak, Zhongming Tian, Bernd Timmermann, Sarah Tishkoff, Lorraine H. Toji, Chris Tyler Smith, Marc Via, Yuhong Wang, Huanming Yang, Ling Yang, Jiayong Zhu, Walter Bodmer, Gabriel Bedoya, Andres Ruiz-Linares, Cai Zhi Ming, Gao Yang, Chu Jia You, Leena Peltonen, Andres Garcia-Montero, Alberto Orfao, Julie Dutil, Juan C. Martinez-Cruzado, Taras K. Oleksyk, Lisa D. Brooks, Adam L. Felsenfeld, Jean E. McEwen, Nicholas C. Clemm, Audrey Duncanson, Michael Dunn, Eric D. Green, Mark S. Guyer, Jane L. Peterson, Goncalo R. Abecasis, Adam Auton, Lisa D. Brooks, Mark A. DePristo, Richard M. Durbin, Robert E. Handsaker, Hyun Min Kang, Gabor T. Marth, Gil A. McVean
Abstract
By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of low-coverage whole-genome and exome sequencing. By developing methods to integrate information across several algorithms and diverse data sources, we provide a validated haplotype map of 38 million single nucleotide polymorphisms, 1.4 million short insertions and deletions, and more ...
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