期刊
NATURE
卷 526, 期 7571, 页码 68-+出版社
NATURE PORTFOLIO
DOI: 10.1038/nature15393
关键词
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资金
- Wellcome Trust [090532/Z/09/Z, 095552/Z/11/Z, WT098051, WT095908, WT109497, WT086084/Z/08/Z, WT100956/Z/13/Z, WT097307, WT0855322/Z/08/Z, WT090770/Z/09/Z, 089276/Z.09/Z]
- Medical Research Council UK [G0801823]
- UK Biotechnology and Biological Sciences Research Council [BB/I02593X/1, BB/I021213/1]
- British Heart Foundation
- Monument Trust
- European Molecular Biology Laboratory
- European Research Council [617306]
- Chinese 863 Program [2012AA02A201]
- National Basic Research program of China 973 program [2011CB809201, 2011CB809202, 2011CB809203]
- Natural Science Foundation of China [31161130357]
- Shenzhen Municipal Government of China [ZYC201105170397A]
- Canadian Institutes of Health Research [136855]
- Canada Research Chair
- Le Fonds de Recherche du Quebec-Sante (FRQS)
- Genome Quebec
- Ontario Ministry of Research and Innovation - Ontario Institute for Cancer Research Investigator Award
- Quebec Ministry of Economic Development, Innovation, and Exports [PSR-SIIRI-195]
- German Federal Ministry of Education and Research (BMBF) [0315428A, 01GS08201]
- Max Planck Society
- BMBF-EPITREAT [0316190A]
- German Research Foundation (Deutsche Forschungsgemeinschaft) [KO4037/1-1]
- Beatriu de Pinos Program [2006 BP-A 10144, 2009 BP-B 00274]
- Spanish National Institute for Health Research [PRB2 IPT13/0001-ISCIII-SGEFI/FEDER]
- Ewha Womans University
- Japan Society for the Promotion of Science [PE13075]
- Louis Jeantet Foundation
- Marie Curie Actions Career Integration grant [303772]
- Swiss National Science Foundation [31003A_130342]
- NCCR Frontiers in Genetics
- University of Geneva
- US National Institutes of Health National Center for Biotechnology Information
- Harvard Medical School Eleanor and Miles Shore Fellowship
- Lundbeck Foundation [R170-2014-1039]
- NIJ [2014-DN-BX-K089]
- Mary Beryl Patch Turnbull Scholar Program
- NSF Graduate Research Fellowship [DGE-1147470]
- Simons Foundation SFARI [SF51]
- Sloan Foundation
- [U54HG3067]
- [U54HG3273]
- [U01HG5211]
- [U54HG3079]
- [R01HG2898]
- [R01HG2385]
- [RC2HG5552]
- [U01HG6513]
- [U01HG5214]
- [U01HG5715]
- [U01HG5718]
- [U01HG5728]
- [U41HG7635]
- [U41HG7497]
- [R01HG4960]
- [R01HG5701]
- [R01HG5214]
- [R01HG6855]
- [R01HG7068]
- [R01HG7644]
- [DP2OD6514]
- [DP5OD9154]
- [R01CA166661]
- [R01CA172652]
- [P01GM99568]
- [R01GM59290]
- [R01GM104390]
- [T32GM7790]
- [R01HL87699]
- [R01HL104608]
- [T32HL94284]
- [HHSN268201100040C]
- [HHSN272201000025C]
- BBSRC [BB/I02593X/1, BB/I021213/1] Funding Source: UKRI
- MRC [G0801823] Funding Source: UKRI
- Swiss National Science Foundation (SNF) [31003A_130342] Funding Source: Swiss National Science Foundation (SNF)
- Biotechnology and Biological Sciences Research Council [BB/I021213/1, BB/I02593X/1] Funding Source: researchfish
- Lundbeck Foundation [R170-2014-1039] Funding Source: researchfish
- Medical Research Council [G0801823] Funding Source: researchfish
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.
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