A global reference for human genetic variation (original) (raw)

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Acknowledgements

We thank the many people who were generous with contributing their samples to the project: the African Caribbean in Barbados; Bengali in Bangladesh; British in England and Scotland; Chinese Dai in Xishuangbanna, China; Colombians in Medellin, Colombia; Esan in Nigeria; Finnish in Finland; Gambian in Western Division – Mandinka; Gujarati Indians in Houston, Texas, USA; Han Chinese in Beijing, China; Iberian populations in Spain; Indian Telugu in the UK; Japanese in Tokyo, Japan; Kinh in Ho Chi Minh City, Vietnam; Luhya in Webuye, Kenya; Mende in Sierra Leone; people with African ancestry in the southwest USA; people with Mexican ancestry in Los Angeles, California, USA; Peruvians in Lima, Peru; Puerto Ricans in Puerto Rico; Punjabi in Lahore, Pakistan; southern Han Chinese; Sri Lankan Tamil in the UK; Toscani in Italia; Utah residents (CEPH) with northern and western European ancestry; and Yoruba in Ibadan, Nigeria. Many thanks to the people who contributed to this project: P. Maul, T. Maul, and C. Foster; Z. Chong, X. Fan, W. Zhou, and T. Chen; N. Sengamalay, S. Ott, L. Sadzewicz, J. Liu, and L. Tallon; L. Merson; O. Folarin, D. Asogun, O. Ikpwonmosa, E. Philomena, G. Akpede, S. Okhobgenin, and O. Omoniwa; the staff of the Institute of Lassa Fever Research and Control (ILFRC), Irrua Specialist Teaching Hospital, Irrua, Edo State, Nigeria; A. Schlattl and T. Zichner; S. Lewis, E. Appelbaum, and L. Fulton; A. Yurovsky and I. Padioleau; N. Kaelin and F. Laplace; E. Drury and H. Arbery; A. Naranjo, M. Victoria Parra, and C. Duque; S. Dökel, B. Lenz, and S. Schrinner; S. Bumpstead; and C. Fletcher-Hoppe. Funding for this work was from the Wellcome Trust Core Award 090532/Z/09/Z and Senior Investigator Award 095552/Z/11/Z (P.D.), and grants WT098051 (R.D.), WT095908 and WT109497 (P.F.), WT086084/Z/08/Z and WT100956/Z/13/Z (G.M.), WT097307 (W.K.), WT0855322/Z/08/Z (R.L.), WT090770/Z/09/Z (D.K.), the Wellcome Trust Major Overseas program in Vietnam grant 089276/Z.09/Z (S.D.), the Medical Research Council UK grant G0801823 (J.L.M.), the UK Biotechnology and Biological Sciences Research Council grants BB/I02593X/1 (G.M.) and BB/I021213/1 (A.R.L.), the British Heart Foundation (C.A.A.), the Monument Trust (J.H.), the European Molecular Biology Laboratory (P.F.), the European Research Council grant 617306 (J.L.M.), the Chinese 863 Program 2012AA02A201, the National Basic Research program of China 973 program no. 2011CB809201, 2011CB809202 and 2011CB809203, Natural Science Foundation of China 31161130357, the Shenzhen Municipal Government of China grant ZYC201105170397A (J.W.), the Canadian Institutes of Health Research Operating grant 136855 and Canada Research Chair (S.G.), Banting Postdoctoral Fellowship from the Canadian Institutes of Health Research (M.K.D.), a Le Fonds de Recherche du Québec-Santé (FRQS) research fellowship (A.H.), Genome Quebec (P.A.), the Ontario Ministry of Research and Innovation – Ontario Institute for Cancer Research Investigator Award (P.A., J.S.), the Quebec Ministry of Economic Development, Innovation, and Exports grant PSR-SIIRI-195 (P.A.), the German Federal Ministry of Education and Research (BMBF) grants 0315428A and 01GS08201 (R.H.), the Max Planck Society (H.L., G.M., R.S.), BMBF-EPITREAT grant 0316190A (R.H., M.L.), the German Research Foundation (Deutsche Forschungsgemeinschaft) Emmy Noether Grant KO4037/1-1 (J.O.K.), the Beatriu de Pinos Program grants 2006 BP-A 10144 and 2009 BP-B 00274 (M.V.), the Spanish National Institute for Health Research grant PRB2 IPT13/0001-ISCIII-SGEFI/FEDER (A.O.), Ewha Womans University (C.L.), the Japan Society for the Promotion of Science Fellowship number PE13075 (N.P.), the Louis Jeantet Foundation (E.T.D.), the Marie Curie Actions Career Integration grant 303772 (C.A.), the Swiss National Science Foundation 31003A_130342 and NCCR “Frontiers in Genetics” (E.T.D.), the University of Geneva (E.T.D., T.L., G.M.), the US National Institutes of Health National Center for Biotechnology Information (S.S.) and grants U54HG3067 (E.S.L.), U54HG3273 and U01HG5211 (R.A.G.), U54HG3079 (R.K.W., E.R.M.), R01HG2898 (S.E.D.), R01HG2385 (E.E.E.), RC2HG5552 and U01HG6513 (G.T.M., G.R.A.), U01HG5214 (A.C.), U01HG5715 (C.D.B.), U01HG5718 (M.G.), U01HG5728 (Y.X.F.), U41HG7635 (R.K.W., E.E.E., P.H.S.), U41HG7497 (C.L., M.A.B., K.C., L.D., E.E.E., M.G., J.O.K., G.T.M., S.A.M., R.E.M., J.L.S., K.Y.), R01HG4960 and R01HG5701 (B.L.B.), R01HG5214 (G.A.), R01HG6855 (S.M.), R01HG7068 (R.E.M.), R01HG7644 (R.D.H.), DP2OD6514 (P.S.), DP5OD9154 (J.K.), R01CA166661 (S.E.D.), R01CA172652 (K.C.), P01GM99568 (S.R.B.), R01GM59290 (L.B.J., M.A.B.), R01GM104390 (L.B.J., M.Y.Y.), T32GM7790 (C.D.B., A.R.M.), P01GM99568 (S.R.B.), R01HL87699 and R01HL104608 (K.C.B.), T32HL94284 (J.L.R.F.), and contracts HHSN268201100040C (A.M.R.) and HHSN272201000025C (P.S.), Harvard Medical School Eleanor and Miles Shore Fellowship (K.L.), Lundbeck Foundation Grant R170-2014-1039 (K.L.), NIJ Grant 2014-DN-BX-K089 (Y.E.), the Mary Beryl Patch Turnbull Scholar Program (K.C.B.), NSF Graduate Research Fellowship DGE-1147470 (G.D.P.), the Simons Foundation SFARI award SF51 (M.W.), and a Sloan Foundation Fellowship (R.D.H.). E.E.E. is an investigator of the Howard Hughes Medical Institute.

Author information

Author notes

  1. Leena Peltonen: Deceased

Authors and Affiliations

  1. Department of Genetics, Albert Einstein College of Medicine, Bronx, 10461, New York, USA
    Adam Auton, Adam Auton (Principal Investigator), Christopher L. Campbell, Yu Kong, Anthony Marcketta, Adam Auton (Principal Investigator), Anthony Marcketta & Adam Auton
  2. Center for Statistical Genetics, Biostatistics, University of Michigan, Ann Arbor, 48109, Michigan, USA
    Gonçalo R. Abecasis, Gonçalo R. Abecasis, Gonçalo R. Abecasis (Principal Investigator) (Co-Chair), Hyun Min Kang (Project Leader), Tom Blackwell, Sean Caron, Lars Fritsche, Christian Fuchsberger, Goo Jun, Chris Scheller, Carlo Sidore, Daniel Taliun, Adrian Tan, Ryan Welch, Mary Kate Wing, Gonçalo R. Abecasis (Principal Investigator), Goo Jun, Gonçalo R. Abecasis (Principal Investigator), Hyun Min Kang, Gonçalo R. Abecasis (Principal Investigator), Gonçalo R. Abecasis (Principal Investigator), Gonçalo R. Abecasis, Hyun Min Kang & Gonçalo R. Abecasis
  3. Vertex Pharmaceuticals, Boston, 02210, Massachusetts, USA
    David M. Altshuler (Co-Chair), David M. Altshuler, David M. Altshuler, David M. Altshuler & David M. Altshuler
  4. Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, CB10 1SA, UK
    Richard M. Durbin (Co-Chair), Matthew E. Hurles, Richard M. Durbin (Principal Investigator), Senduran Balasubramaniam, John Burton, Petr Danecek, Thomas M. Keane, Anja Kolb-Kokocinski, Shane McCarthy, James Stalker, Michael Quail, Erik P. Garrison (Project Lead), Richard M. Durbin (Principal Investigator), Matthew E. Hurles (Principal Investigator), Chris Tyler-Smith (Principal Investigator), Qasim Ayub, Senduran Balasubramaniam, Yuan Chen, Vincenza Colonna, Petr Danecek, Thomas M. Keane, Shane McCarthy, Klaudia Walter, Yali Xue, Erik P. Garrison, Matthew E. Hurles (Principal Investigator), Ben Blackburne, Sarah J. Lindsay, Zemin Ning, Klaudia Walter, Yujun Zhang, Erik P. Garrison, Chris Tyler-Smith (Principal Investigator) (Co-Chair), Yuan Chen, Vincenza Colonna, Yali Xue, Erik P. Garrison, Chris Tyler-Smith (Principal Investigator) (Co-Chair), Qasim Ayub, Ruby Banerjee, Maria Cerezo, Yuan Chen, Thomas W. Fitzgerald, Sandra Louzada, Andrea Massaia, Shane McCarthy, Graham R. Ritchie, Yali Xue, Fengtang Yang, Richard M. Durbin (Principal Investigator), Senduran Balasubramaniam, Thomas M. Keane, Shane McCarthy, James Stalker, Richard M. Durbin, Chris Tyler-Smith, Richard M. Durbin, Erik P. Garrison & Shane McCarthy
  5. Illumina United Kingdom, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, CB10 1XL, Essex, UK
    David R. Bentley, David R. Bentley (Principal Investigator), Russell Grocock, Sean Humphray, Terena James, Zoya Kingsbury, David R. Bentley (Principal Investigator), Markus Bauer, R. Keira Cheetham, Anthony Cox, Michael Eberle, Sean Humphray, Lisa Murray, John Peden, Richard Shaw, David R. Bentley (Principal Investigator), R. Keira Cheetham, Michael Eberle, Sean Humphray, Lisa Murray, Richard Shaw, David R. Bentley (Principal Investigator), Anthony Cox & Sean Humphray
  6. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, 21205, Maryland, USA
    Aravinda Chakravarti & Aravinda Chakravarti (Co-Chair)
  7. Center for Comparative and Population Genomics, Cornell University, Ithaca, 14850, New York, USA
    Andrew G. Clark, Andrew G. Clark (Principal Investigator), Alon Keinan, Jeremiah Degenhardt, Andrew G. Clark (Principal Investigator) & Alon Keinan
  8. Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK
    Peter Donnelly, Gil A. McVean, Gil A. McVean (Principal Investigator), Gerton Lunter (Principal Investigator), Gil A. McVean (Principal Investigator) (Co-Chair), Jonathan L. Marchini (Principal Investigator), Simon Myers (Principal Investigator), Anjali Gupta-Hinch, Warren Kretzschmar, Zamin Iqbal, Iain Mathieson, Dionysia K. Xifara, Luke Jostins, Gerton Lunter (Principal Investigator), Gil A. McVean (Principal Investigator), Gil A. McVean (Principal Investigator), Gil A. McVean (Principal Investigator), Gil A. McVean, Muminatou Jallow, Fatoumatta Sisay Joof, Tumani Corrah, Kirk Rockett, Dominic Kwiatkowski, Jonathan L. Marchini & Gil A. McVean
  9. Department of Statistics, University of Oxford, Oxford, OX1 3TG, UK
    Peter Donnelly, Gil A. McVean, Gil A. McVean (Principal Investigator), Gil A. McVean (Principal Investigator) (Co-Chair), Jonathan L. Marchini (Principal Investigator), Simon Myers (Principal Investigator), Claire Churchhouse, Olivier Delaneau, Androniki Menelaou, Dionysia K. Xifara, Gil A. McVean (Principal Investigator), Gil A. McVean (Principal Investigator), Gil A. McVean (Principal Investigator), Gil A. McVean, Jonathan L. Marchini & Gil A. McVean
  10. Department of Genome Sciences, University of Washington School of Medicine, Seattle, 98195, Washington, USA
    Evan E. Eichler, Deborah A. Nickerson, Evan E. Eichler (Principal Investigator), Fereydoun Hormozdiari, Peter H. Sudmant, Evan E. Eichler (Principal Investigator) (Co-Chair), Mark J. Chaisson, Fereydoun Hormozdiari, John Huddleston, Maika Malig, Bradley J. Nelson & Peter H. Sudmant
  11. Howard Hughes Medical Institute, University of Washington, Seattle, 98195, Washington, USA
    Evan E. Eichler, Evan E. Eichler (Principal Investigator), Evan E. Eichler (Principal Investigator) (Co-Chair) & John Huddleston
  12. European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK
    Paul Flicek, Jan O. Korbel, Paul Flicek (Principal Investigator), 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, Jan O. Korbel (Principal Investigator), Paul Flicek (Principal Investigator), Kathryn Beal, Laura Clarke, Avik Datta, William M. McLaren, Graham R. S. Ritchie, Richard E. Smith, Daniel Zerbino, Xiangqun Zheng-Bradley, Jan O. Korbel (Principal Investigator) (Co-Chair), Paul Flicek (Principal Investigator), Francesco Paolo Casale, Laura Clarke, Richard E. Smith, Oliver Stegle, Xiangqun Zheng-Bradley, Paul Flicek (Principal Investigator), Laura Clarke, Richard E. Smith, Xiangqun Zheng-Bradley, Paul Flicek (Principal Investigator), Laura Clarke, Fiona Cunningham, Ian Dunham, Daniel Zerbino, Xiangqun Zheng-Bradley, Paul Flicek (Principal Investigator), Laura Clarke, Xiangqun Zheng-Bradley, Paul Flicek (Principal Investigator) (Co-Chair), Laura Clarke (Project Lead), Xiangqun Zheng-Bradley & Jan O. Korbel
  13. The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, 02142, Massachusetts, USA
    Stacey B. Gabriel, Eric S. Lander, Eric S. Lander (Principal Investigator), Stacey B. Gabriel (Co-Chair), Namrata Gupta, Mark J. Daly (Principal Investigator), Robert E. Handsaker (Project Leader), Eric Banks, Gaurav Bhatia, Guillermo del Angel, Stacey B. Gabriel, Giulio Genovese, Namrata Gupta, Heng Li, Seva Kashin, Eric S. Lander, Steven A. McCarroll, James C. Nemesh, Ryan E. Poplin, Pardis C. Sabeti (Principal Investigator), Ilya Shlyakhter, Stephen F. Schaffner, Joseph Vitti, Melissa Gymrek, Xinmeng Jasmine Mu, Steven A. McCarroll (Principal Investigator), Robert E. Handsaker (Project Leader), Eric Banks, Guillermo del Angel, Giulio Genovese, Chris Hartl, Heng Li, Seva Kashin, James C. Nemesh, Khalid Shakir, Xinmeng Jasmine Mu, Guillermo del Angel, Stacey B. Gabriel, Namrata Gupta, Chris Hartl, Ryan E. Poplin, Kasper Lage (Principal Investigator), Jakob Berg Jespersen, Heiko Horn, Robert E. Handsaker, Seva Kashin, Steven A. McCarroll, Melissa Gymrek, Pardis C. Sabeti, Pardis C. Sabeti, Matt Stremlau, Ridhi Tariyal & Pardis C. Sabeti
  14. Baylor College of Medicine, Human Genome Sequencing Center, Houston, 77030, Texas, USA
    Richard A. Gibbs, Richard A. Gibbs (Principal Investigator), Eric Boerwinkle, Harsha Doddapaneni, Yi Han, Viktoriya Korchina, Christie Kovar, Sandra Lee, Donna Muzny, Jeffrey G. Reid, Yiming Zhu, Richard A. Gibbs (Principal Investigator), Fuli Yu (Project Leader), Lilian Antunes, Matthew Bainbridge, Donna Muzny, Aniko Sabo, Zhuoyi Huang, Richard A. Gibbs (Principal Investigator) (Co-Chair), Fuli Yu (Project Leader), Matthew Bainbridge, Danny Challis, Uday S. Evani, Christie Kovar, James Lu, Donna Muzny, Uma Nagaswamy, Jeffrey G. Reid, Aniko Sabo, Jin Yu, Richard A. Gibbs (Principal Investigator), Christie Kovar, Divya Kalra, Walker Hale, Donna Muzny, Jeffrey G. Reid & Richard A. Gibbs
  15. US National Institutes of Health, National Human Genome Research Institute, 31 Center Drive, Bethesda, 20892, Maryland, USA
    Eric D. Green & Eric D. Green
  16. Centre of Genomics and Policy, McGill University, Montreal, H3A 1A4, Quebec, Canada
    Bartha M. Knoppers & Bartha M. Knoppers (Co-Chair)
  17. European Molecular Biology Laboratory, Genome Biology Research Unit, Meyerhofstr. 1, Heidelberg, Germany
    Jan O. Korbel, Jan O. Korbel (Principal Investigator), Tobias Rausch (Project Leader), Adrian M. Stütz, Jan O. Korbel (Principal Investigator) (Co-Chair), Sascha Meiers, Benjamin Raeder, Tobias Rausch, Adrian M. Stütz & Jan O. Korbel
  18. The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, 06032, Connecticut, USA
    Charles Lee, Charles Lee (Principal Investigator), Eliza Cerveira, Jaeho Hwang, Ankit Malhotra (Co-Project Lead), Dariusz Plewczynski, Kamen Radew, Mallory Romanovitch, Chengsheng Zhang (Co-Project Lead), Charles Lee (Principal Investigator) (Co-Chair), Eliza Cerveira, Ankit Malhotra, Jaeho Hwang, Dariusz Plewczynski, Kamen Radew, Mallory Romanovitch, Chengsheng Zhang, Charles Lee, Eliza Cerveira, Ankit Malhotra, Mallory Romanovitch & Chengsheng Zhang
  19. Department of Life Sciences, Ewha Womans University, Ewhayeodae-gil, Seodaemun-gu, Seoul, South Korea, 120-750
    Charles Lee, Charles Lee (Principal Investigator), Charles Lee (Principal Investigator) (Co-Chair) & Charles Lee
  20. Max Planck Institute for Molecular Genetics, D-14195 Berlin-Dahlem, Germany
    Hans Lehrach, Hans Lehrach (Principal Investigator), Vyacheslav S. Amstislavskiy, Matthias Lienhard, Florian Mertes, Marc Sultan, Bernd Timmermann, Marie-Laure Yaspo, Vyacheslav S. Amstislavskiy, Ralf Herwig & Matthias Lienhard
  21. Dahlem Centre for Genome Research and Medical Systems Biology, D-14195 Berlin-Dahlem, Germany
    Hans Lehrach & Hans Lehrach (Principal Investigator)
  22. McDonnell Genome Institute at Washington University, Washington University School of Medicine, St Louis, 63108, Missouri, USA
    Elaine R. Mardis, Richard K. Wilson, Elaine R. Mardis (Co-Principal Investigator) (Co-Chair), Richard K. Wilson (Co-Principal Investigator), Lucinda Fulton, Robert Fulton, Elaine R. Mardis (Co-Principal Investigator), Li Ding, Daniel C. Koboldt, David Larson, Kai Ye, Li Ding (Principal Investigator), Ira Hall, Kai Ye, Elaine R. Mardis (Principal Investigator), Robert Fulton, Daniel C. Koboldt & David Larson
  23. USTAR Center for Genetic Discovery & Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, 84112, Utah, USA
    Gabor T. Marth, Gabor T. Marth (Principal Investigator), Alistair N. Ward, Gabor T. Marth (Principal Investigator), Alistair N. Ward, Jiantao Wu, Mengyao Zhang, Gabor T. Marth (Principal Investigator) (Co-Chair), Wen Fung Leong & Alistair N. Ward
  24. Affymetrix, Santa Clara, California, 95051, USA
    Jeanette P. Schmidt, Jeanette P. Schmidt (Principal Investigator), Christopher J. Davies, Jeremy Gollub, Teresa Webster, Brant Wong & Yiping Zhan
  25. US National Institutes of Health, National Center for Biotechnology Information, 45 Center Drive, Bethesda, 20892, Maryland, USA
    Stephen T. Sherry, Stephen T. Sherry (Principal Investigator), Victor Ananiev, Zinaida Belaia, Dimitriy Beloslyudtsev, Nathan Bouk, Chao Chen, Robert Cohen, Charles Cook, John Garner, Timothy Hefferon, Mikhail Kimelman, Chunlei Liu, John Lopez, Peter Meric, Yuri Ostapchuk, Lon Phan, Sergiy Ponomarov, Valerie Schneider, Eugene Shekhtman, Karl Sirotkin, Douglas Slotta, Hua Zhang, Stephen T. Sherry (Principal Investigator), Chunlin Xiao, Chunlin Xiao, Stephen T. Sherry (Principal Investigator), Chunlin Xiao, Stephen T. Sherry (Principal Investigator) (Co-Chair) & Chunlin Xiao
  26. BGI-Shenzhen, Shenzhen 518083, China
    Jun Wang, Jun Wang (Principal Investigator), 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, 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, Haojing Shao, Yinlong Xie, Chen Ye, Chang Yu, Fan Zhang, Hancheng Zheng, Hongmei Zhu, Yingrui Li, Ruibang Luo, Hongmei Zhu, Xiaosen Guo, Wangshen Li, Yingrui Li, Renhua Wu, Jun Wang (Principal Investigator), Xu Dan, Xiaosen Guo, Guoqing Li, Yingrui Li, Chen Ye, Xiaole Zheng, Hongyu Cai, Hongzhi Cao, Yingrui Li, Yeyang Su, Zhongming Tian, Yuhong Wang, Huanming Yang, Ling Yang, Jiayong Zhu, Zhiming Cai, Jiayong Zhu, Jun Wang & Huanming Yang
  27. Department of Biology, University of Copenhagen, Ole Maaløes Vej 5, Copenhagen, 2200, Denmark
    Jun Wang, Jun Wang (Principal Investigator), Qiang Feng, Xiaodong Fang, Xiaosen Guo, Min Jian, Hui Jiang, Xiao Liu, Jun Wang (Principal Investigator), Lin Fang, Xiaosen Guo, Jun Wang (Principal Investigator), Xiaosen Guo, Hongzhi Cao & Jun Wang
  28. Princess Al Jawhara Albrahim Center of Excellence in the Research of Hereditary Disorders, King Abdulaziz University, Jeddah, 80205, Saudi Arabia
    Jun Wang, Jun Wang (Principal Investigator), Jun Wang (Principal Investigator), Jun Wang (Principal Investigator) & Jun Wang
  29. Macau University of Science and Technology, Avenida Wai long, Taipa, 999078, Macau, China
    Jun Wang, Jun Wang (Principal Investigator), Jun Wang (Principal Investigator), Jun Wang (Principal Investigator) & Jun Wang
  30. Department of Medicine and State Key Laboratory of Pharmaceutical Biotechnology, University of Hong Kong, 21 Sassoon Road, Hong Kong
    Jun Wang, Jun Wang (Principal Investigator), Jun Wang (Principal Investigator), Jun Wang (Principal Investigator) & Jun Wang
  31. Coriell Institute for Medical Research, Camden, 08103, New Jersey, USA
    Neda Gharani, Lorraine H. Toji, Norman P. Gerry, Alissa M. Resch, Christine Beiswanger, Norman P. Gerry, Neda Gharani, Alissa M. Resch & Lorraine H. Toji
  32. European Centre for Public Heath Genomics, UNU-MERIT, Maastricht University, PO Box 616, Maastricht, 6200, MD, The Netherlands
    Ralf Sudbrak (Project Leader), Ralf Sudbrak (Project Leader), Ralf Sudbrak (Project Lead) & Ralf Sudbrak
  33. Alacris Theranostics, D-14195 Berlin-Dahlem, Germany
    Marcus W. Albrecht, Tatiana A. Borodina & Marcus W. Albrecht
  34. Personalis, Menlo Park, California, 94025, USA
    Deanna Church & Deanna Church
  35. US National Institutes of Health, National Human Genome Research Institute, 50 South Drive, Bethesda, 20892, Maryland, USA
    Chris O’Sullivan
  36. Department of Computer Engineering, Bilkent University, Bilkent, TR-06800, Ankara, Turkey
    Can Alkan, Elif Dal, Fatma Kahveci, Can Alkan, Elif Dal & Fatma Kahveci
  37. Seven Bridges Genomics, 1 Broadway, 14th floor, Cambridge, 02142, Massachusetts, USA
    Deniz Kural, Wan-Ping Lee, Deniz Kural & Wan-Ping Lee
  38. Department of Agronomy, Kansas State University, Manhattan, 66506, Kansas, USA
    Wen Fung Leong
  39. Illumina, San Diego, 92122, California, USA
    Michael Stromberg, Jiantao Wu, Bret Barnes, Scott Kahn, Bret Barnes, Scott Kahn & Scott Kahn
  40. Department of Genetics, Harvard Medical School, Cambridge, 02142, Massachusetts, USA
    Mengyao Zhang, Robert E. Handsaker (Project Leader), Seva Kashin, Steven A. McCarroll, Steven A. McCarroll (Principal Investigator), Robert E. Handsaker (Project Leader), Seva Kashin, Robert E. Handsaker, Seva Kashin & Steven A. McCarroll
  41. SynapDx, Four Hartwell Place, Lexington, 02421, Massachusetts, USA
    Mark A. DePristo (Project Leader) & Mark A. DePristo
  42. Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, 11724, USA
    Seungtai C. Yoon (Principal Investigator), Jayon Lihm, Seungtai C. Yoon (Principal Investigator) & Jayon Lihm
  43. Seaver Autism Center and Department of Psychiatry, Mount Sinai School of Medicine, New York, 10029, New York, USA
    Vladimir Makarov & Vladimir Makarov
  44. Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, 14853, New York, USA
    Srikanth Gottipati, Haiyuan Yu (Principal Investigator) & Danielle Jones
  45. Department of Genetic Medicine, Weill Cornell Medical College, New York, 10044, New York, USA
    Juan L. Rodriguez-Flores, Juan L. Rodriguez-Flores & Juan L. Rodriguez-Flores
  46. European Molecular Biology Laboratory, Genomics Core Facility, Meyerhofstrasse 1, Heidelberg, 69117, Germany
    Tobias Rausch (Project Leader), Markus H. Fritz, Markus H. Fritz & Tobias Rausch
  47. Bill Lyons Informatics Centre, UCL Cancer Institute, University College London, London, WC1E 6DD, UK
    Javier Herrero
  48. Center for Systems Biology and Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, 02138, Massachusetts, USA
    Pardis C. Sabeti (Principal Investigator), Ilya Shlyakhter, Stephen F. Schaffner, Pardis C. Sabeti, Pardis C. Sabeti, Matt Stremlau, Ridhi Tariyal & Pardis C. Sabeti
  49. Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, 02138, Massachusetts, USA
    Joseph Vitti
  50. Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK
    David N. Cooper (Principal Investigator), Edward V. Ball & Peter D. Stenson
  51. Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1498, New York, 10029-6574, New York, USA
    Eimear E. Kenny (Principal Investigator)
  52. Department of Biological Sciences, Louisiana State University, Baton Rouge, 70803, Louisiana, USA
    Mark A. Batzer (Principal Investigator), Miriam K. Konkel, Jerilyn A. Walker, Mark A. Batzer (Principal Investigator), Miriam K. Konkel & Jerilyn A. Walker
  53. Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, 02114, Massachusetts, USA
    Daniel G. MacArthur (Principal Investigator), Monkol Lek & Daniel G. MacArthur (Principal Investigator)
  54. McGill University and Genome Quebec Innovation Centre, 740, Avenue du Dr. Penfield, Montreal, H3A 0G1, Quebec, Canada
    Simon Gravel, Simon Gravel & Simon Gravel
  55. National Eye Institute, National Institutes of Health, Bethesda, 20892, Maryland, USA
    Anand Swaroop & Emily Chew
  56. New York Genome Center, 101 Avenue of the Americas, 7th floor, New York, 10013, New York, USA
    Tuuli Lappalainen (Principal Investigator), Yaniv Erlich (Principal Investigator), Melissa Gymrek, Yaniv Erlich & Melissa Gymrek
  57. Department of Systems Biology, Columbia University, New York, 10032, NY, USA
    Tuuli Lappalainen (Principal Investigator)
  58. Department of Computer Science, Fu Foundation School of Engineering, Columbia University, New York, New York, USA
    Yaniv Erlich (Principal Investigator) & Yaniv Erlich
  59. Harvard–MIT Division of Health Sciences and Technology, Cambridge, 02139, Massachusetts, USA
    Melissa Gymrek & Melissa Gymrek
  60. General Hospital and Harvard Medical School, Boston, 02114, Massachusetts, USA
    Melissa Gymrek & Melissa Gymrek
  61. Whitehead Institute for Biomedical Research, Nine Cambridge Center, Cambridge, 02142, Massachusetts, USA
    Thomas Frederick Willems & Thomas Frederick Willems
  62. Ontario Institute for Cancer Research, MaRS Centre, 661 University Avenue, Suite 510, Toronto, M5G 0A3, Ontario, Canada
    Jared T. Simpson & Philip Awadalla (Principal Investigator)
  63. Department of Anthropology, Penn State University, University Park, Pennsylvania, 16802, USA
    Mark D. Shriver (Principal Investigator)
  64. Rutgers Cancer Institute of New Jersey, New Brunswick, 08903, New Jersey, USA
    Jeffrey A. Rosenfeld (Principal Investigator) & Carlos D. Bustamante (Principal Investigator)
  65. Department of Genetics, Stanford University, Stanford, 94305, California, USA
    Francisco M. De La Vega (Principal Investigator), Phil Lacroute, Brian K. Maples, Alicia R. Martin, Andres Moreno-Estrada, Suyash S. Shringarpure, Fouad Zakharia, Phil Lacroute, Carlos D. Bustamante (Principal Investigator), Carlos D. Bustamante (Principal Investigator) (Co-Chair), Fernando L. Mendez, Peter A. Underhill, Carlos D. Bustamante, Andres Moreno-Estrada & Karla Sandoval
  66. Departments of Genetics and Pathology, Stanford University, Stanford, 94305-5324, California, USA
    Stephen B. Montgomery (Principal Investigator), Marianne K. DeGorter, Stephen B. Montgomery (Principal Investigator) & Marianne K. DeGorter
  67. Ancestry.com, San Francisco, 94107, California, USA
    Jake K. Byrnes
  68. DNAnexus, 1975 West El Camino Real STE 101, Mountain View California, 94040, USA
    Andrew W. Carroll
  69. Laboratorio Nacional de Genómica para la Biodiversidad (LANGEBIO), CINVESTAV, Irapuato, 36821, Guanajuato, Mexico
    Andres Moreno-Estrada & Andres Moreno-Estrada
  70. Blavatnik School of Computer Science, Tel-Aviv University, Tel-Aviv, 69978, Israel
    Eran Halperin (Principal Investigator) & Yael Baran
  71. Department of Microbiology, Tel-Aviv University, Tel-Aviv, 69978, Israel
    Eran Halperin (Principal Investigator)
  72. International Computer Science Institute, Berkeley, 94704, California, USA
    Eran Halperin (Principal Investigator)
  73. Thermo Fisher Scientific, 200 Oyster Point Boulevard, South San Francisco, 94080, California, USA
    Fiona C. L. Hyland
  74. The Translational Genomics Research Institute, Phoenix, 85004, Arizona, USA
    David W. Craig (Principal Investigator), Alexis Christoforides, Tyler Izatt, Ahmet A. Kurdoglu, Shripad A. Sinari, David W. Craig (Principal Investigator), David W. Craig (Principal Investigator), Alexis Christoforides, Tyler Izatt, David W. Craig (Principal Investigator), Tyler Izatt & Ahmet A. Kurdoglu
  75. Life Technologies, Beverly, 01915, Massachusetts, USA
    Nils Homer, Nils Homer & Nils Homer
  76. Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, 90024, California, USA
    Kevin Squire
  77. Department of Psychiatry, University of California, San Diego, La Jolla, 92093, California, USA
    Jonathan Sebat (Principal Investigator), Danny Antaki, Madhusudan Gujral, Amina Noor, Jonathan Sebat (Principal Investigator) & Danny Antaki
  78. Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, 92093, California, USA
    Jonathan Sebat (Principal Investigator)
  79. Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, 10461, New York, USA
    Kenny Ye & Kenny Ye
  80. Departments of Bioengineering and Therapeutic Sciences, University of California, San Francisco, California, 94158, San Francisco, USA
    Esteban G. Burchard (Principal Investigator), Ryan D. Hernandez (Principal Investigator), Christopher R. Gignoux, Esteban G. Burchard & Christopher R. Gignoux
  81. Institute for Quantitative Biosciences (QB3), University of California, San Francisco, 1700 4th Street, San Francisco, 94158, California, USA
    Ryan D. Hernandez (Principal Investigator)
  82. Institute for Human Genetics, University of California, San Francisco, 1700 4th Street, San Francisco, 94158, California, USA
    Ryan D. Hernandez (Principal Investigator)
  83. Center for Biomolecular Science and Engineering, University of California, Santa Cruz, Santa Cruz, 95064, California, USA
    David Haussler (Principal Investigator), Sol J. Katzman, W. James Kent & David Haussler (Principal Investigator)
  84. Howard Hughes Medical Institute, Santa Cruz, 95064, California, USA
    David Haussler (Principal Investigator) & David Haussler (Principal Investigator)
  85. Department of Human Genetics, University of Chicago, Chicago, 60637, Illinois, USA
    Bryan Howie
  86. Department of Genetics, Evolution and Environment, University College London, London, WC1E 6BT, UK
    Andres Ruiz-Linares (Principal Investigator) & Andres Ruiz-Linares
  87. Department of Genetic Medicine and Development, University of Geneva Medical School, 1211 Geneva, Switzerland
    Emmanouil T. Dermitzakis (Principal Investigator), Olivier Delaneau, Andy Rimmer & Emmanouil T. Dermitzakis (Principal Investigator)
  88. Institute for Genetics and Genomics in Geneva, University of Geneva, 1211 Geneva, Switzerland
    Emmanouil T. Dermitzakis (Principal Investigator) & Emmanouil T. Dermitzakis (Principal Investigator)
  89. Swiss Institute of Bioinformatics, 1211 Geneva, Switzerland
    Emmanouil T. Dermitzakis (Principal Investigator) & Emmanouil T. Dermitzakis (Principal Investigator)
  90. Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, 21201, Maryland, USA
    Scott E. Devine (Principal Investigator), Scott E. Devine (Principal Investigator) & Eugene J. Gardner (Project Leader)
  91. Department of Computational Medicine and Bioinfomatics, University of Michigan, Ann Arbor, 48109, Michigan, USA
    Jeffrey M. Kidd (Principal Investigator), Shiya Song, Jeffrey M. Kidd (Principal Investigator), Ryan E. Mills (Principal Investigator) & Gargi Dayama
  92. Department of Human Genetics, University of Michigan Medical School, Ann Arbor, 48109, Michigan, USA
    Jeffrey M. Kidd (Principal Investigator), Sarah Emery, Elzbieta Sliwerska, Jeffrey M. Kidd (Principal Investigator), Ryan E. Mills (Principal Investigator), Gargi Dayama & Sarah Emery
  93. Department of Pediatrics, University of Pittsburgh, Pittsburgh, 15224, Pennsylvania, USA
    Wei Chen
  94. The University of Texas Health Science Center at Houston, Houston, 77030, Texas, USA
    Goo Jun, Yunxin Fu (Principal Investigator), Xiaoming Liu, Momiao Xiong & Goo Jun
  95. Vanderbilt University School of Medicine, Nashville, 37232, Tennessee, USA
    Bingshan Li & Nicholas F. Parrish
  96. University of Michigan Sequencing Core, University of Michigan, Ann Arbor, 48109, Michigan, USA
    Robert Lyons
  97. Istituto di Ricerca Genetica e Biomedica, CNR, Monserrato, 09042, Cagliari, Italy
    Carlo Sidore
  98. Dipartimento di Scienze Biomediche, Università delgi Studi di Sassari, Sassari, 07100, Italy
    Carlo Sidore
  99. University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, 75390, Texas, USA
    Xiaowei Zhan
  100. Department of Pediatrics, University of Montreal, Ste. Justine Hospital Research Centre, Montreal, H3T 1C5, Quebec, Canada
    Philip Awadalla (Principal Investigator) & Alan Hodgkinson
  101. Department of Genetics, Department of Biostatistics, Department of Computer Science, University of Chapel Hill, North Carolina, 27599, USA
    Yun Li
  102. Department of Bioinformatics and Genomics, College of Computing and Informatics, University of North Carolina at Charlotte, 9201 University City Boulevard, Charlotte, 28223, North Carolina, USA
    Xinghua Shi (Principal Investigator), Andrew Quitadamo, Xinghua Shi (Principal Investigator) & Andrew Quitadamo
  103. Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands
    Androniki Menelaou
  104. Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, 00680, Puerto Rico, USA
    Taras K. Oleksyk (Principal Investigator), Juan C. Martinez-Cruzado & Taras K. Oleksyk
  105. Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, 84112, Utah, USA
    Lynn Jorde (Principal Investigator), David Witherspoon, David Witherspoon & Lynn Jorde
  106. Department of Genetics, Rutgers University, Piscataway, New Jersey, 08854, USA
    Jinchuan Xing & Jinchuan Xing
  107. Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, 98195, Washington, USA
    Brian L. Browning (Principal Investigator)
  108. Department of Biostatistics, University of Washington, Seattle, 98195, Washington, USA
    Sharon R. Browning (Principal Investigator)
  109. Department of Physiology and Biophysics, Weill Cornell Medical College, New York, New York 10065, USA,
    Ekta Khurana (Principal Investigator), Ekta Khurana (Principal Investigator) & Ekta Khurana (Principal Investigator)
  110. Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, GA Nijmegen, 6525, The Netherlands
    Cornelis A. Albers
  111. Department of Molecular Developmental Biology, Faculty of Science, Radboud Institute for Molecular Life Sciences (RIMLS), Radboud University, Nijmegen, 6500, HB, The Netherlands
    Cornelis A. Albers
  112. Institute of Genetics and Biophysics, National Research Council (CNR), Naples, 80125, Italy
    Vincenza Colonna & Vincenza Colonna
  113. Program in Computational Biology and Bioinformatics, Yale University, New Haven, 06520, Connecticut, USA
    Mark B. Gerstein (Principal Investigator), Jieming Chen, Yao Fu, Arif O. Harmanci, Donghoon Lee, Xinmeng Jasmine Mu, Jing Zhang, Yan Zhang, Mark B. Gerstein (Principal Investigator), Jieming Chen, Xinmeng Jasmine Mu, Cristina Sisu, Jing Zhang, Yan Zhang, Mark B. Gerstein (Principal Investigator), Lukas Habegger, Mark B. Gerstein (Principal Investigator) (Co-Chair) & Yao Fu
  114. Department of Computer Science, Yale University, New Haven, 06520, Connecticut, USA
    Mark B. Gerstein (Principal Investigator), Mark B. Gerstein (Principal Investigator), Mark B. Gerstein (Principal Investigator) & Mark B. Gerstein (Principal Investigator) (Co-Chair)
  115. Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, 06520, Connecticut, USA
    Mark B. Gerstein (Principal Investigator), Suganthi Balasubramanian, Mike Jin, Jeremy Liu, Jing Zhang, Yan Zhang, Mark B. Gerstein (Principal Investigator), Jing Zhang, Yan Zhang, Mark B. Gerstein (Principal Investigator), Suganthi Balasubramanian, Mark B. Gerstein (Principal Investigator) (Co-Chair), Suganthi Balasubramanian & Donghoon Kim
  116. Department of Health Sciences Research, Mayo Clinic, Rochester, 55905, Minnesota, USA
    Alexej Abyzov & Alexej Abyzov
  117. Department of Chemistry, Yale University, New Haven, 06520, Connecticut, USA
    Declan Clarke & Declan Clarke
  118. Department of Medical Statistics and Bioinformatics, Molecular Epidemiology Section, Leiden University Medical Center, 2333, ZA, The Netherlands
    Eric-Wubbo Lameijer
  119. Department of Computer Science, University of California, San Diego, La Jolla, 92093, California, USA
    Vineet Bafna
  120. Beyster Center for Genomics of Psychiatric Diseases, University of California, San Diego, La Jolla, 92093, California, USA
    Jacob Michaelson
  121. Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, 77230, Texas, USA
    Ken Chen (Principle Investigator), Xian Fan, Zechen Chong & Tenghui Chen
  122. Bina Technologies, Roche Sequencing, Redwood City, 94065, California, USA
    Hugo Lam
  123. Department of Surgery, Massachusetts General Hospital, Boston, 02114, Massachusetts, USA
    Kasper Lage (Principal Investigator), Jakob Berg Jespersen & Heiko Horn
  124. Department of Systems Biology, Center for Biological Sequence Analysis, Technical University of Denmark, Kemitorvet Building 208, Lyngby, 2800, Denmark
    Jakob Berg Jespersen
  125. Sackler Institute for Comparative Genomics, American Museum of Natural History, New York, 10024, New York, USA
    Rob Desalle
  126. Department of Invertebrate Zoology, American Museum of Natural History, New York, 10024, New York, USA
    Apurva Narechania
  127. School of Life Sciences, Arizona State University, Tempe, 85287-4701, Arizona, USA
    Melissa A. Wilson Sayres
  128. Program in Biomedical Informatics, Stanford University, Stanford, 94305, California, USA
    G. David Poznik
  129. Institute for Molecular Bioscience, University of Queensland, St Lucia, QLD 4072, Australia
    Lachlan Coin (Principal Investigator) & Haojing Shao
  130. Virginia Bioinformatics Institute, 1015 Life Sciences Drive, Blacksburg, 24061, Virginia, USA
    David Mittelman
  131. Division of Allergy and Clinical Immunology, School of Medicine, Johns Hopkins University, Baltimore, 21205, Maryland, USA
    Kathleen C. Barnes & Kathleen C. Barnes
  132. Department of Ecology and Evolution, Stony Brook University, Stony Brook, 11794, New York, USA
    Brenna Henn
  133. Centre for Health, Law and Emerging Technologies, University of Oxford, Oxford, OX3 7LF, UK
    Jane S. Kaye
  134. Genetic Alliance, London, N1 3QP, UK
    Alastair Kent
  135. Nuffield Department of Population Health, The Ethox Center, University of Oxford, Old Road Campus, OX3 7LF, UK
    Angeliki Kerasidou & Michael Parker
  136. Johns Hopkins University School of Medicine, Baltimore, 21205, Maryland, USA
    Rasika Mathias & Rasika A. Mathias
  137. Department of Medical History and Bioethics, Morgridge Institute for Research, University of Wisconsin-Madison, Madison, 53706, Wisconsin, USA
    Pilar N. Ossorio
  138. University of Wisconsin Law School, Madison, 53706, Wisconsin, USA
    Pilar N. Ossorio
  139. US National Institutes of Health, Center for Research on Genomics and Global Health, National Human Genome Research Institute, 12 South Drive, Bethesda, 20892, Maryland, USA
    Charles N. Rotimi
  140. Department of African & African American Studies, Duke University, Durham, North, 27708, Carolina, USA
    Charmaine D. Royal
  141. Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, 19104, Pennsylvania, USA
    Sarah Tishkoff
  142. Department of Psychiatry and Clinical Psychobiology & Institute for Brain, Cognition and Behavior (IR3C), University of Barcelona, Barcelona, 08035, Spain
    Marc Via
  143. Cancer and Immunogenetics Laboratory, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK
    Walter Bodmer
  144. Laboratory of Molecular Genetics, Institute of Biology, University of Antioquia, Medellín, Colombia
    Gabriel Bedoya
  145. Peking University Shenzhen Hospital, Shenzhen, 518036, China
    Yang Gao
  146. Institute of Medical Biology, Chinese Academy of Medical Sciences and Peking Union Medical College, Kunming, 650118, China
    Jiayou Chu
  147. Instituto de Biologia Molecular y Celular del Cancer, Centro de Investigacion del Cancer/IBMCC (CSIC-USAL), Institute of Biomedical Research of Salamanca (IBSAL) & National DNA Bank Carlos III, University of Salamanca, Salamanca, 37007, Spain
    Andres Garcia-Montero & Alberto Orfao
  148. Ponce Research Institute, Ponce Health Sciences University, Ponce, 00716, Puerto Rico
    Julie Dutil
  149. Chronic Disease Research Centre, Tropical Medicine Research Institute, Cave Hill Campus, The University of the West Indies,
    Anselm Hennis
  150. Faculty of Medical Sciences, Cave Hill Campus, The University of the West Indies,
    Anselm Hennis & Harold Watson
  151. Tropical Metabolism Research Unit, Tropical Medicine Research Institute, Mona Campus, The University of the West Indies,
    Colin McKenzie
  152. International Centre for Diarrhoeal Disease Research, Dhaka, Bangladesh
    Firdausi Qadri & Regina LaRocque
  153. Xishuangbanna Health School, Xishuangbanna, 666100, China
    Xiaoyan Deng
  154. Irrua Specialist Teaching Hospital, Edo State, Nigeria
    Danny Asogun
  155. Redeemers University, Ogun State, Nigeria
    Onikepe Folarin, Christian Happi & Omonwunmi Omoniwa
  156. Harvard T. H. Chan School of Public Health, Boston, 02115, Massachusetts, USA
    Christian Happi & Omonwunmi Omoniwa
  157. Medical Research Council Unit, The Gambia, Atlantic Boulevard, Fajara, P.O. Box 273, Banjul, The Gambia
    Muminatou Jallow, Fatoumatta Sisay Joof, Tumani Corrah, Kirk Rockett & Dominic Kwiatkowski
  158. NHLI, Imperial College London, Hammersmith Hospital, London, SW7 2AZ, UK
    Jaspal Kooner
  159. Centre for Tropical Medicine, Oxford University Clinical Research Unit, Ho Chi Minh City, Vietnam
    Trâ`n Tịnh Hiê`n, Sarah J. Dunstan & Nguyen Thuy Hang
  160. Peter Doherty Institute of Infection and Immunity, The University of Melbourne, 792 Elizabeth Street, Melbourne, 3000, VIC, Australia
    Sarah J. Dunstan
  161. Kenema Government Hospital, Ministry of Health and Sanitation, Kenema, Sierra Leone
    Richard Fonnie, Lansana Kanneh & Donald S. Grant
  162. Tulane University Health Sciences Center, New Orleans, 70112, Louisiana, USA
    Robert Garry, Lina Moses, John Schieffelin & Donald S. Grant
  163. Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Peru
    Carla Gallo & Giovanni Poletti
  164. Center for Non-Communicable Diseases, Karachi, Pakistan
    Danish Saleheen & Asif Rasheed
  165. Department of Epidemiology and Biostatistics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, 19104, Pennsylvania, USA
    Danish Saleheen
  166. US National Institutes of Health, National Human Genome Research Institute, 5635 Fishers Lane, Bethesda, 20892, Maryland, USA
    Lisa D. Brooks, Adam L. Felsenfeld, Jean E. McEwen, Yekaterina Vaydylevich, Jeffery A. Schloss & Lisa D. Brooks
  167. Wellcome Trust, Gibbs Building, 215 Euston Road, London, NW1 2BE, UK
    Audrey Duncanson & Michael Dunn
  168. James D. Watson Institute of Genome Sciences, Hangzhou, 310008, China
    Huanming Yang

Consortia

The 1000 Genomes Project Consortium

Contributions

Details of author contributions can be found in the author list.

Corresponding authors

Correspondence toAdam Auton, Gonçalo R. Abecasis, Gonçalo R. Abecasis, Gonçalo R. Abecasis, Adam Auton or Gonçalo R. Abecasis.

Ethics declarations

Competing interests

D.M.A. is affiliated with Vertex Pharmaceuticals, E.A. is on the speaker’s bureau for Illumina, P.A. is an advisor to Illumina and Ancestry.com, D.R.B., B.B., M.B., R.K.C., A.C., M.E., S.H., S.K., L.M., J.P. and R.S. are affiliated with Illumina, J.K.B. is affiliated with Ancestry.com, A.C. is on the Science Advisory Board of Biogen Idec. and the scientific advisory board of Affymetrix, A.W.C. is affiliated with DNAnexus, D.C. is affiliated with Personalis, C.J.D., J.G., J.P.S., T.W., B.W., and Y.Z. are affiliated with Affymetrix, E.T.D. is an advisor for DNAnexus, F.M.D.L.V. is employed by Real Time Genomics, M.A.D. is affiliated with SynapDx, P.D. is a co-founder and director of Genomics, and a partner in Peptide Groove, R.D. is a founder of Congenica and a consultant for Dovetail, E.E.E. is on the scientific advisory board of DNAnexus, and is a consultant for Kunming University of Science and Technology as part of the 1000 China Talent Program, P.F. is a member of the scientific advisory board of Omicia, M.G. is an advisor to Bina and DNAnexus, F.C.L.H. is affiliated with ThermoFisher Scientific, N.H. is affiliated with Life Technologies, C.L. is a scientific advisor for BioNano Genomics, H.Y.K.L. is affiliated with Bina Technologies which is part of Roche Sequencing, E.R.M. holds shares in Life Technologies, and G.M. is a co-founder of Genomics and a partner in Peptide Groove.

Additional information

(Participants are arranged by project role, then by institution alphabetically, and finally alphabetically within institutions except for Principal Investigators and Project Leaders, as indicated.)

Extended data figures and tables

Extended Data Figure 1 Summary of the callset generation pipeline.

Boxes indicate steps in the process and numbers indicate the corresponding section(s) within the Supplementary Information.

Extended Data Figure 2 Power of discovery and heterozygote genotype discordance.

a, The power of discovery within the main data set for SNPs and indels identified within an overlapping sample of 284 genomes sequenced to high coverage by Complete Genomics (CG), and against a panel of >60,000 haplotypes constructed by the Haplotype Reference Consortium (HRC)[9](/articles/nature15393#ref-CR9 "The Haplotype Reference Consortium ( http://www.haplotype-reference-consortium.org/

            )"). To provide a measure of uncertainty, one curve is plotted for each chromosome. **b,** Improved power of discovery in phase 3 compared to phase 1, as assessed in a sample of 170 Complete Genomics genomes that are included in both phase 1 and phase 3\. **c,** Heterozygote discordance in phase 3 for SNPs, indels, and SVs compared to 284 Complete Genomics genomes. **d,** Heterozygote discordance for phase 3 compared to phase 1 within the intersecting sample. **e,** Sensitivity to detect Complete Genomics SNPs as a function of sequencing depth. **f,** Heterozygote genotype discordance as a function of sequencing depth, as compared to Complete Genomics data.

Extended Data Figure 3 Variant counts.

a, The number of variants within the phase 3 sample as a function of alternative allele frequency. b, The average number of detected variants per genome with whole-sample allele frequencies <0.5% (grey bars), with the average number of singletons indicated by colours.

Extended Data Figure 4 The standardized number of variant sites per genome, partitioned by population and variant category.

For each category, _z_-scores were calculated by subtracting the mean number of sites per genome (calculated across the whole sample), and dividing by the standard deviation. From left: sites with a derived allele, synonymous sites with a derived allele, nonsynonymous sites with a derived allele, sites with a loss-of-function allele, sites with a HGMD disease mutation allele, sites with a ClinVar pathogenic variant, and sites carrying a GWAS risk allele.

Extended Data Figure 5 Population structure as inferred using the admixture program for K = 5 to 12.

Extended Data Figure 6 Allelic sharing.

a, Genotype covariance (above diagonal) and sharing of _f_2 variants (below diagonal) between pairs of individuals. b, Quantification of average _f_2 sharing between populations. Each row represents the distribution of _f_2 variants shared between individuals from the population indicated on the left to individuals from each of the sampled populations. c, The average number of _f_2 variants per haploid genome. d, The inferred age of _f_2 variants, as estimated from shared haplotype lengths, with black dots indicating the median value.

Extended Data Figure 7 Unsmoothed PSMC curves.

a, The median PSMC curve for each population. b, PSMC curves estimated separately for all individuals within the 1000 Genomes sample. c, Unsmoothed PSMC curves comparing estimates from the low coverage data (dashed lines) to those obtained from high coverage PCR-free data (solid lines). Notable differences are confined to very recent time intervals, where the additional rare variants identified by deep sequencing suggest larger population sizes.

Within each continental group, the maximum PBS statistic was selected from all pairwise population comparisons within the continental group against all possible out-of-continent populations. Note the x axis shows the number of polymorphic sites within the maximal comparison.

Extended Data Figure 9 Performance of imputation.

a, Performance of imputation in 6 populations using a subset of phase 3 as a reference panel (n = 2,445), phase 1 (n = 1,065), and the corresponding data within intersecting samples from both phases (n = 1,006). b, Performance of imputation from phase 3 by variant class.

Extended Data Figure 10 Decay of linkage disequilibrium as a function of physical distance.

Linkage disequilibrium was calculated around 10,000 randomly selected polymorphic sites in each population, having first thinned each population down to the same sample size (61 individuals). The plotted line represents a 5 kb moving average.

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The 1000 Genomes Project Consortium. A global reference for human genetic variation.Nature 526, 68–74 (2015). https://doi.org/10.1038/nature15393

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