A global reference for human genetic variation

被引：10084

作者：

Altshuler, David M. ^{[3
]}

Durbin, Richard M. ^{[4
]}

Abecasis, Goncalo R. ^{[2
]}

Bentley, David R. ^{[5
]}

Chakravarti, Aravinda ^{[6
]}

Clark, Andrew G. ^{[7
]}

Donnelly, Peter ^{[8
,9
]}

Eichler, Evan E. ^{[10
,11
]}

Flicek, Paul ^{[12
]}

Gabriel, Stacey B. ^{[13
]}

Gibbs, Richard A. ^{[14
]}

Green, Eric D. ^{[15
]}

Hurles, Matthew E. ^{[4
]}

Knoppers, Bartha M. ^{[16
]}

Korbel, Jan O. ^{[12
]}

Lander, Eric S. ^{[13
]}

Lee, Charles ^{[18
,19
]}

Lehrach, Hans ^{[20
,21
]}

Mardis, Elaine R. ^{[22
]}

Marth, Gabor T. ^{[23
,24
]}

McVean, Gil A. ^{[8
,9
]}

Nickerson, Deborah A. ^{[10
]}

Wang, Jun ^{[27
,28
,29
,30
,31
,32
]}

Wilson, Richard K. ^{[22
]}

Boerwinkle, Eric ^{[14
]}

Doddapaneni, Harsha ^{[14
]}

Han, Yi ^{[14
]}

Korchina, Viktoriya ^{[14
]}

Kovar, Christie ^{[14
]}

Lee, Sandra ^{[14
]}

Muzny, Donna ^{[14
]}

Reid, Jeffrey G. ^{[14
]}

Zhu, Yiming ^{[14
]}

Chang, Yuqi ^{[27
]}

Feng, Qiang ^{[27
,28
]}

Fang, Xiaodong ^{[27
,28
]}

Guo, Xiaosen ^{[27
]}

Jian, Min ^{[27
,28
]}

Jiang, Hui ^{[27
,28
]}

Jin, Xin ^{[27
]}

Lan, Tianming ^{[27
]}

Li, Guoqing ^{[27
]}

Li, Jingxiang ^{[27
]}

Li, Yingrui ^{[27
]}

Liu, Shengmao ^{[27
]}

Liu, Xiao ^{[27
,28
]}

Lu, Yao ^{[27
]}

Ma, Xuedi ^{[27
]}

Tang, Meifang ^{[27
]}

Wang, Bo ^{[27
]}

机构：

[1] Albert Einstein Coll Med, Dept Genet, Bronx, NY 10461 USA

[2] Univ Michigan, Ctr Stat Genet, Biostat, Ann Arbor, MI 48109 USA

[3] Vertex Pharmaceut, Boston, MA 02210 USA

[4] Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

[5] Illumina United Kingdom, Saffron Walden CB10 1XL, Essex, England

[6] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USA

[7] Cornell Univ, Ctr Comparat & Populat Genom, Ithaca, NY 14850 USA

[8] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

[9] Univ Oxford, Dept Stat, Oxford OX1 3TG, England

[10] Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA

[11] Univ Washington, Howard Hughes Med Inst, Seattle, WA 98195 USA

[12] European Bioinformat Inst, European Mol Biol Lab, Cambridge CB10 1SD, England

[13] Broad Inst MIT & Harvard, Cambridge, MA 02142 USA

[14] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA

[15] NHGRI, US Natl Inst Hlth, Bethesda, MD 20892 USA

[16] McGill Univ, Ctr Genom & Policy, Montreal, PQ H3A 1A4, Canada

[17] European Mol Biol Lab, Genome Biol Res Unit, Heidelberg, Germany

[18] Jackson Lab Genom Med, Farmington, CT 06032 USA

[19] Ewha Womans Univ, Dept Life Sci, Seoul 120750, South Korea

[20] Max Planck Inst Mol Genet, D-14195 Berlin, Germany

[21] Dahlem Ctr Genome Res & Med Syst Biol, D-14195 Berlin, Germany

[22] Washington Univ, Sch Med, McDonnell Genome Inst, St Louis, MO 63108 USA

[23] Univ Utah, Sch Med, USTAR Ctr Genet Discovery, Salt Lake City, UT 84112 USA

[24] Univ Utah, Sch Med, Dept Human Genet, Salt Lake City, UT 84112 USA

[25] Affymetrix, Santa Clara, CA 95051 USA

[26] US Natl Inst Hlth, Natl Ctr Biotechnol Informat, Bethesda, MD 20892 USA

[27] BGI Shenzhen, Shenzhen 518083, Peoples R China

[28] Univ Copenhagen, Dept Biol, DK-2200 Copenhagen, Denmark

[29] King Abdulaziz Univ, Princess Al Jawhara Albrahim Ctr Excellence Res H, Jeddah 80205, Saudi Arabia

[30] Macau Univ Sci & Technol, Taipa 999078, Macau, Peoples R China

[31] Univ Hong Kong, Dept Med, Hong Kong, Hong Kong, Peoples R China

[32] Univ Hong Kong, State Key Lab Pharmaceut Biotechnol, Hong Kong, Hong Kong, Peoples R China

[33] Coriell Inst Med Res, Camden, NJ 08103 USA

[34] Maastricht Univ, UNU MERIT, European Ctr Publ Heath Genom, NL-6200 MD Maastricht, Netherlands

[35] Alacris Theranost, D-14195 Berlin, Germany

[36] Personalis, Menlo Pk, CA 94025 USA

[37] NHGRI, US Natl Inst Hlth, Bethesda, MD 20892 USA

[38] Bilkent Univ, Dept Comp Engn, TR-06800 Ankara, Turkey

[39] Seven Bridges Genom, Cambridge, MA 02142 USA

[40] Kansas State Univ, Dept Agron, Manhattan, KS 66506 USA

[41] Illumina, San Diego, CA 92122 USA

[42] Harvard Univ, Sch Med, Dept Genet, Cambridge, MA 02142 USA

[43] SynapDx, Lexington, MA 02421 USA

[44] Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

[45] Mt Sinai Sch Med, Seaver Autism Ctr, New York, NY 10029 USA

[46] Mt Sinai Sch Med, Dept Psychiat, New York, NY 10029 USA

[47] Cornell Univ, Dept Biol Stat & Computat Biol, Ithaca, NY 14853 USA

[48] Weill Cornell Med Coll, Dept Med Genet, New York, NY 10044 USA

[49] European Mol Biol Lab, Genom Core Facil, D-69117 Heidelberg, Germany

[50] UCL, UCL Canc Inst, Bill Lyons Informat Ctr, London WC1E 6DD, England

来源：

NATURE | 2015年 / 526卷 / 7571期

基金：

加拿大健康研究院; 瑞士国家科学基金会; 英国惠康基金; 英国生物技术与生命科学研究理事会; 美国国家卫生研究院; 欧洲研究理事会; 英国医学研究理事会; 日本学术振兴会;

关键词：

GENOME-WIDE ASSOCIATION; COMPLEMENT FACTOR-H; MACULAR DEGENERATION; MUTATION; VARIANT; SUSCEPTIBILITY; LOC387715; COMMON; RARE;

D O I：

10.1038/nature15393

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页码：68 / +

页数：20

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