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A global reference for human genetic variation

Nature · 2015 · Vol. 526(7571) · pp. 68–74

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

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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.

Genetic Associations and Epidemiology Genomics and Rare Diseases Genomics and Phylogenetic Studies1000 Genomes ProjectGenomeBiologyReference genomeGenetic variationExome sequencingSingle-nucleotide polymorphismGeneticsHaplotypeIndel

MeSH terms

DemographyDisease SusceptibilityGenetics, MedicalGenetics, PopulationGenotypeHaplotypesHumansReference StandardsGenetic VariationGenome, HumanSequence Analysis, DNAPhysical Chromosome MappingPolymorphism, Single NucleotideGenomicsRare Diseases