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A global reference for human genetic variation

Title:	A global reference for human genetic variation
Authors:	Altshuler, David M.; Durbin, Richard M.; Abecasis, Goncalo R.; Bentley, David R.; Chakravarti, Aravinda; Clark, Andrew G.; Donnelly, Peter; Eichler, Evan E.; Flicek, Paul; Gabriel, Stacey B.; Gibbs, Richard A.; Green, Eric D.; Hurles, Matthew E.; Knoppers, Bartha M.; Korbel, Jan O.; Lander, Eric S.; Lee, Charles; Lehrach, Hans; Mardis, Elaine R.; Marth, Gabor T.; McVean, Gil A.; Nickerson, Deborah A.; Schmidt, Jeanette P.; Sherry, Stephen T.; Wang, Jun; Wilson, Richard K.; Boerwinkle, Eric; Doddapaneni, Harsha; Han
Contributors:	Auton, A (reprint author), Albert Einstein Coll Med, Dept Genet, Bronx, NY 10461 USA.; Albert Einstein Coll Med, Dept Genet, Bronx, NY 10461 USA.; Univ Michigan, Ctr Stat Genet, Biostat, Ann Arbor, MI 48109 USA.; Vertex Pharmaceut, Boston, MA 02210 USA.; Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England.; Illumina United Kingdom, Saffron Walden CB10 1XL, Essex, England.; Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USA.; Cornell Univ, Ctr Comparat & Populat Genom, Ithaca, NY 14850 USA.; Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England.; Univ Oxford, Dept Stat, Oxford OX1 3TG, England.; Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA.; Univ Washington, Howard Hughes Med Inst, Seattle, WA 98195 USA.; European Bioinformat Inst, European Mol Biol Lab, Cambridge CB10 1SD, England.; Broad Inst MIT & Harvard, Cambridge, MA 02142 USA.; Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA.; NHGRI, US Natl Inst Hlth, Bethesda, MD 20892 USA.; McGill Univ, Ctr Genom & Policy, Montreal, PQ H3A 1A4, Canada.; European Mol Biol Lab, Genome Biol Res Unit, Heidelberg, Germany.; Jackson Lab Genom Med, Farmington, CT 06032 USA.; Ewha Womans Univ, Dept Life Sci, Seoul 120750, South Korea.; Max Planck Inst Mol Genet, D-14195 Berlin, Germany.; Dahlem Ctr Genome Res & Med Syst Biol, D-14195 Berlin, Germany.; Washington Univ, Sch Med, McDonnell Genome Inst, St Louis, MO 63108 USA.; Univ Utah, Sch Med, USTAR Ctr Genet Discovery, Salt Lake City, UT 84112 USA.; Univ Utah, Sch Med, Dept Human Genet, Salt Lake City, UT 84112 USA.; Affymetrix, Santa Clara, CA 95051 USA.; US Natl Inst Hlth, Natl Ctr Biotechnol Informat, Bethesda, MD 20892 USA.; BGI Shenzhen, Shenzhen 518083, Peoples R China.; Univ Copenhagen, Dept Biol, DK-2200 Copenhagen, Denmark.; King Abdulaziz Univ, Princess Jawhara Albrahim Ctr Excellence Res Here, Jeddah 80205, Saudi Arabia.; Macau Univ Sci & Technol, Taipa 999078, Macau, Peoples R China.; Univ Hong Kong, Dept Med, Hong Kong, Hong Kong, Peoples R China.; Univ Hong Kong, State Key Lab Pharmaceut Biotechnol, Hong Kong, Hong Kong, Peoples R China.; Coriell Inst Med Res, Camden, NJ 08103 USA.; Maastricht Univ, UNU MERIT, European Ctr Publ Heath Genom, NL-6200 MD Maastricht, Netherlands.; Alacris Theranost, D-14195 Berlin, Germany.; Personalis, Menlo Pk, CA 94025 USA.; Bilkent Univ, Dept Comp Engn, TR-06800 Ankara, Turkey.; Seven Bridges Genom, Cambridge, MA 02142 USA.; Kansas State Univ, Dept Agron, Manhattan, KS 66506 USA.; Illumina, San Diego, CA 92122 USA.; Harvard Univ, Sch Med, Dept Genet, Cambridge, MA 02142 USA.; SynapDx, Lexington, MA 02421 USA.; Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA.; Mt Sinai Sch Med, Seaver Autism Ctr, New York, NY 10029 USA.; Mt Sinai Sch Med, Dept Psychiat, New York, NY 10029 USA.; Cornell Univ, Dept Biol Stat & Computat Biol, Ithaca, NY 14853 USA.; Weill Cornell Med Coll, Dept Med Genet, New York, NY 10044 USA.; European Mol Biol Lab, Genom Core Facil, D-69117 Heidelberg, Germany.; UCL, UCL Canc Inst, Bill Lyons Informat Ctr, London WC1E 6DD, England.; Harvard Univ, Ctr Syst Biol, Cambridge, MA 02138 USA.; Harvard Univ, Dept Organism & Evolutionary Biol, Cambridge, MA 02138 USA.; Cardiff Univ, Sch Med, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales.; Icahn Sch Med Mt Sinai, New York, NY 10029 USA.; Louisiana State Univ, Dept Sci Biol, Baton Rouge, LA 70803 USA.; Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA.; McGill Univ, Montreal, PQ H3A 0G1, Canada.; Genome Quebec Innovat Ctr, Montreal, PQ H3A 0G1, Canada.; NEI, NIH, Bethesda, MD 20892 USA.; New York Genome Ctr, New York, NY 10013 USA.; Columbia Univ, Dept Syst Biol, New York, NY 10032 USA.; Columbia Univ, Fu Fdn Sch Engn, Dept Comp Sci, New York, NY USA.; Harvard Mit Div Hlth Sci & Technol, Cambridge, MA 02139 USA.; Gen Hosp, Boston, MA 02114 USA.; Harvard Univ, Sch Med, Boston, MA 02114 USA.; Whitehead Inst Biomed Res, Cambridge Ctr 9, Cambridge, MA 02142 USA.; Ontario Inst Canc Res, MaRS Ctr, Toronto, ON M5G 0A3, Canada.; Penn State Univ, Dept Anthropol, University Pk, PA 16802 USA.; Rutgers Canc Inst New Jersey, New Brunswick, NJ 08903 USA.; Stanford Univ, Dept Genet, Stanford, CA 94305 USA.; Stanford Univ, Dept Pathol, Stanford, CA 94305 USA.; Ancestry Com, San Francisco, CA 94107 USA.; DNAnexus, Mountain View, CA 94040 USA.; CINVESTAV, Lab Nacl Genom Biodiversidad LANGEBIO, Guanajuato 36821, Mexico.; Tel Aviv Univ, Blavatnik Sch Comp Sci, IL-69978 Tel Aviv, Israel.; Tel Aviv Univ, Dept Microbiol, IL-69978 Tel Aviv, Israel.; Int Comp Sci Inst, Berkeley, CA 94704 USA.; Thermo Fisher Sci, San Francisco, CA 94080 USA.; Translat Genom Res Inst, Phoenix, AZ 85004 USA.; Life Technol, Beverly, MA 01915 USA.; Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90024 USA.; Univ Calif San Diego, Dept Psychiat, La Jolla, CA 92093 USA.; Univ Calif San Diego, Dept Cellular & Mol Med, La Jolla, CA 92093 USA.; Albert Einstein Coll Med, Dept Epidemiol & Populat Hlth, Bronx, NY 10461 USA.; Univ Calif San Francisco, Dept Bioengn, San Francisco, CA 94158 USA.; Univ Calif San Francisco, Dept Therapeut Sci, San Francisco, CA 94158 USA.; Univ Calif San Francisco, Inst Quantitat Biosci QB3, San Francisco, CA 94158 USA.; Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94158 USA.; Univ Calif Santa Cruz, Ctr Biomol Sci & Engn, Santa Cruz, CA 95064 USA.; Howard Hughes Med Inst, Santa Cruz, CA 95064 USA.; Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA.; UCL, Dept Genet Evolut & Environm, London WC1E 6BT, England.; Univ Geneva, Sch Med, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland.; Univ Geneva, Inst Genet & Genom Geneva, CH-1211 Geneva, Switzerland.; Swiss Inst Bioinformat, CH-1211 Geneva, Switzerland.; Univ Maryland, Sch Med, Inst Genome Sci, Baltimore, MD 21201 USA.; Univ Michigan, Dept Computat Med & Bioinfomat, Ann Arbor, MI 48109 USA.; Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USA.
Source:	SCI
Publisher Information:	NATURE
Publication Year:	2015
Collection:	Peking University Institutional Repository (PKU IR) / 北京大学机构知识库
Subject Terms:	GENOME-WIDE ASSOCIATION; COMPLEMENT FACTOR-H; MACULAR DEGENERATION; POPULATION HISTORY; BAYES FACTORS; MUTATION; DISEASE; VARIANT; SUSCEPTIBILITY; INDIVIDUALS
Description:	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 [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]; ...
Document Type:	journal/newspaper
Language:	English
Relation:	1400712; http://hdl.handle.net/20.500.11897/439422; WOS:000362095100036
DOI:	10.1038/nature15393
Availability:	https://hdl.handle.net/20.500.11897/439422; https://doi.org/10.1038/nature15393
Accession Number:	edsbas.DE8DEC3
Database:	BASE