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Nature Research, Nature, 7571(526), p. 68-74

DOI: 10.1038/nature15393

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A global reference for human genetic variation

Journal article published in 2015 by Adam Auton, Guillermo del Angel, Gonçalo R. Abecasis, David M. Altshuler, Yiming Zhu, Richard M. Durbin, Renhua Wu, David R. Bentley, Dandan Zhang, Aravinda Chakravarti, Wenwei Zhang, Andrew G. Clark, Peter Donnelly, Richard A. Gibbs, Xiangqun Zheng-Bradley and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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. ; 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)