Nature Research, Nature, 7571(526), p. 68-74, 2015
DOI: 10.1038/nature15393
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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. ; Wellcome Trust (London, England) (Core Award 090532/Z/09/Z) ; Wellcome Trust (London, England) (Senior Investigator Award 095552/Z/11/Z ) ; Wellcome Trust (London, England) (WT095908) ; Wellcome Trust (London, England) (WT109497) ; Wellcome Trust (London, England) (WT098051) ; Wellcome Trust (London, England) (WT086084/Z/08/Z) ; Wellcome Trust (London, England) (WT100956/Z/13/Z ) ; Wellcome Trust (London, England) (WT097307) ; Wellcome Trust (London, England) (WT0855322/Z/08/Z ) ; Wellcome Trust (London, England) (WT090770/Z/09/Z ) ; Wellcome Trust (London, England) (Major Overseas program in Vietnam grant 089276/Z.09/Z) ; Medical Research Council (Great Britain) (grant G0801823) ; Biotechnology and Biological Sciences Research Council (Great Britain) (grant BB/I02593X/1) ; Biotechnology and Biological Sciences Research Council (Great Britain) (grant BB/I021213/1) ; Zhongguo ke xue ji shu qing bao yan jiu suo. Office of 863 Programme of China (2012AA02A201) ; National Basic Research Program of China (2011CB809201) ; National Basic Research Program of China (2011CB809202) ; National Basic Research Program of China (2011CB809203) ; National Natural Science Foundation of China (31161130357) ; Shenzhen Municipal Government of China (grant ZYC201105170397A) ; Canadian Institutes of Health Research (grant 136855) ; Quebec Ministry of Economic Development, Innovation, and Exports (PSR-SIIRI-195) ; Germany. Bundesministerium für Bildung und Forschung (0315428A) ; Germany. Bundesministerium für Bildung und Forschung (01GS08201) ; Germany. Bundesministerium für Bildung und Forschung (BMBF-EPITREAT grant 0316190A) ; Deutsche Forschungsgemeinschaft (Emmy Noether Grant KO4037/1-1) ; Beatriu de Pinos Program (2006 BP-A 10144) ; Beatriu de Pinos Program (2009 BP-B 00274) ; Spanish National Institute for Health (grant PRB2 IPT13/0001-ISCIII-SGEFI/FEDER) ; Japan Society for the Promotion of Science (fellowship number PE13075) ; Marie Curie Actions Career Integration (grant 303772) ; Fonds National Suisse del la Recherche, SNSF, Scientifique (31003A_130342) ; National Center for Biotechnology Information (U.S.) (U54HG3067) ; National Center for Biotechnology Information (U.S.) (U54HG3273) ; National Center for Biotechnology Information (U.S.) (U01HG5211) ; National Center for Biotechnology Information (U.S.) (U54HG3079) ; National Center for Biotechnology Information (U.S.) (R01HG2898) ; National Center for Biotechnology Information (U.S.) (R01HG2385) ; National Center for Biotechnology Information (U.S.) (RC2HG5552) ; National Center for Biotechnology Information (U.S.) (U01HG6513) ; National Center for Biotechnology Information (U.S.) (U01HG5214) ; National Center for Biotechnology Information (U.S.) (U01HG5715) ; National Center for Biotechnology Information (U.S.) (U01HG5718) ; National Center for Biotechnology Information (U.S.) (U01HG5728) ; National Center for Biotechnology Information (U.S.) (U41HG7635) ; National Center for Biotechnology Information (U.S.) (U41HG7497) ; National Center for Biotechnology Information (U.S.) (R01HG4960) ; National Center for Biotechnology Information (U.S.) (R01HG5701) ; National Center for Biotechnology Information (U.S.) (R01HG5214) ; National Center for Biotechnology Information (U.S.) (R01HG6855) ; National Center for Biotechnology Information (U.S.) (R01HG7068) ; National Center for Biotechnology Information (U.S.) (R01HG7644) ; National Center for Biotechnology Information (U.S.) (DP2OD6514) ; National Center for Biotechnology Information (U.S.) (DP5OD9154) ; National Center for Biotechnology Information (U.S.) (R01CA166661) ; National Center for Biotechnology Information (U.S.) (R01CA172652) ; National Center for Biotechnology Information (U.S.) (P01GM99568) ; National Center for Biotechnology Information (U.S.) (R01GM59290) ; National Center for Biotechnology Information (U.S.) (R01GM104390) ; National Center for Biotechnology Information (U.S.) (T32GM7790) ; National Center for Biotechnology Information (U.S.) (P01GM99568) ; National Center for Biotechnology Information (U.S.) (R01HL87699) ; National Center for Biotechnology Information (U.S.) (R01HL104608) ; National Center for Biotechnology Information (U.S.) (T32HL94284) ; National Center for Biotechnology Information (U.S.) (HHSN268201100040C) ; National Center for Biotechnology Information (U.S.) (HHSN272201000025C) ; Lundbeck Foundation (grant R170-2014-1039 ; Simons Foundation (SFARI award SF51) ; National Science Foundation (U.S.) (Research Fellowship DGE-1147470)