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.
| Original language | English |
|---|---|
| Pages (from-to) | 68-74 |
| Number of pages | 7 |
| Journal | Nature |
| Volume | 526 |
| Issue number | 7571 |
| DOIs | |
| State | Published - 30 Sep 2015 |
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In: Nature, Vol. 526, No. 7571, 30.09.2015, p. 68-74.
Research output: Contribution to journal › Review article › peer-review
TY - JOUR
T1 - A global reference for human genetic variation
AU - Auton, Adam
AU - Abecasis, Gonçalo R.
AU - Altshuler, David M.
AU - Durbin, Richard M.
AU - Bentley, David R.
AU - Chakravarti, Aravinda
AU - Clark, Andrew G.
AU - Donnelly, Peter
AU - Eichler, Evan E.
AU - Flicek, Paul
AU - Gabriel, Stacey B.
AU - Gibbs, Richard A.
AU - Green, Eric D.
AU - Hurles, Matthew E.
AU - Knoppers, Bartha M.
AU - Korbel, Jan O.
AU - Lander, Eric S.
AU - Lee, Charles
AU - Lehrach, Hans
AU - Mardis, Elaine R.
AU - Marth, Gabor T.
AU - McVean, Gil A.
AU - Nickerson, Deborah A.
AU - Schmidt, Jeanette P.
AU - Sherry, Stephen T.
AU - Wang, Jun
AU - Wilson, Richard K.
AU - Boerwinkle, Eric
AU - Doddapaneni, Harsha
AU - Han, Yi
AU - Korchina, Viktoriya
AU - Kovar, Christie
AU - Lee, Sandra
AU - Muzny, Donna
AU - Reid, Jeffrey G.
AU - Zhu, Yiming
AU - Chang, Yuqi
AU - Feng, Qiang
AU - Fang, Xiaodong
AU - Guo, Xiaosen
AU - Jian, Min
AU - Jiang, Hui
AU - Jin, Xin
AU - Lan, Tianming
AU - Li, Guoqing
AU - Li, Jingxiang
AU - Li, Yingrui
AU - Liu, Shengmao
AU - Liu, Xiao
AU - Lu, Yao
AU - Ma, Xuedi
AU - Tang, Meifang
AU - Wang, Bo
AU - Wang, Guangbiao
AU - Wu, Honglong
AU - Wu, Renhua
AU - Xu, Xun
AU - Yin, Ye
AU - Zhang, Dandan
AU - Zhang, Wenwei
AU - Zhao, Jiao
AU - Zhao, Meiru
AU - Zheng, Xiaole
AU - Gupta, Namrata
AU - Gharani, Neda
AU - Toji, Lorraine H.
AU - Gerry, Norman P.
AU - Resch, Alissa M.
AU - Barker, Jonathan
AU - Clarke, Laura
AU - Gil, Laurent
AU - Hunt, Sarah E.
AU - Kelman, Gavin
AU - Kulesha, Eugene
AU - Leinonen, Rasko
AU - McLaren, William M.
AU - Radhakrishnan, Rajesh
AU - Roa, Asier
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AU - Streeter, Ian
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AU - Toneva, Iliana
AU - Vaughan, Brendan
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AU - Grocock, Russell
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AU - Xifara, Dionysia K.
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AU - Fu, Yunxin
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AU - Orfao, Alberto
AU - Dutil, Julie
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AU - Watson, Harold
AU - McKenzie, Colin
AU - Qadri, Firdausi
AU - LaRocque, Regina
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AU - Happi, Christian
AU - Omoniwa, Omonwunmi
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N1 - Funding Information: 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 Ministryof 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. Publisher Copyright: © 2015 Macmillan Publishers Limited. All rights reserved.
PY - 2015/9/30
Y1 - 2015/9/30
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84943171338&partnerID=8YFLogxK
U2 - 10.1038/nature15393
DO - 10.1038/nature15393
M3 - Review article
C2 - 26432245
AN - SCOPUS:84943171338
SN - 0028-0836
VL - 526
SP - 68
EP - 74
JO - Nature
JF - Nature
IS - 7571
ER -