| 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. Gibbs, Richard A. Boerwinkle, Eric Doddapaneni, Harsha Han, |
| Affiliation | 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. NHGRI, US Natl Inst Hlth, Bethesda, MD 20892 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. 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. Univ Pittsburgh, Dept Pediat, Pittsburgh, PA 15224 USA. Univ Texas Hlth Sci Ctr Houston, Houston, TX 77030 USA. Vanderbilt Univ, Sch Med, Nashville, TN 37232 USA. Univ Michigan, Sequencing Core, Ann Arbor, MI 48109 USA. CNR, Ist Ric Genet & Biomed, I-09042 Cagliari, Italy. Univ Sassari, Dipartimento Sci Biomed, I-07100 Sassari, Italy. Univ Texas SW Med Ctr Dallas, Dallas, TX 75390 USA. Univ Montreal, St Justine Hosp, Res Ctr, Dept Pediat, Montreal, PQ H3T 1C5, Canada. Univ Chapel Hill, Dept Comp Sci, Dept Biostat, Dept Genet, Chapel Hill, NC 27599 USA. Univ N Carolina, Coll Comp & Informat, Dept Bioinformat & Genom, Charlotte, NC 28223 USA. Univ Med Ctr Utrecht, Ctr Mol Med, Dept Med Genet, Utrecht, Netherlands. Univ Puerto Rico, Dept Biol, Mayaguez, PR 00680 USA. Univ Utah, Sch Med, Eccles Inst Human Genet, Salt Lake City, UT 84112 USA. Rutgers State Univ, Dept Genet, Piscataway, NJ 08854 USA. Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA. Univ Washington, Dept Biostat, Seattle, WA 98195 USA. Weill Cornell Med Coll, Dept Physiol & Biophys, New York, NY 10065 USA. Radboud Univ Nijmegen, Med Ctr, Radboud Inst Mol Life Sci, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands. Radboud Univ Nijmegen, Med Ctr, Donders Ctr Neurosci, NL-6525 GA Nijmegen, Netherlands. Radboud Univ Nijmegen, Fac Sci, RIMLS, Dept Mol Dev Biol, NL-6500 HB Nijmegen, Netherlands. CNR, Inst Genet & Biophys, I-80125 Naples, Italy. Yale Univ, Program Computat Biol & Bioinformat, New Haven, CT 06520 USA. Yale Univ, Dept Comp Sci, New Haven, CT 06520 USA. Yale Univ, Dept Mol Biophys & Biochem, New Haven, CT 06520 USA. Mayo Clin, Dept Hlth Sci Res, Rochester, MN 55905 USA. Yale Univ, Dept Chem, New Haven, CT 06520 USA. Leiden Univ, Med Ctr, Dept Med Stat & Bioinformat, Mol Epidemiol Sect, NL-2333 ZA Leiden, Netherlands. Univ Calif San Diego, Dept Comp Sci, La Jolla, CA 92093 USA. Univ Calif San Diego, Beyster Ctr Genom Psychiat Dis, La Jolla, CA 92093 USA. Univ Texas MD Anderson Canc Ctr, Dept Bioinformat & Computat Biol, Houston, TX 77230 USA. Roche Sequencing, Bina Technol, Redwood City, CA 94065 USA. Massachusetts Gen Hosp, Dept Surg, Boston, MA 02114 USA. Tech Univ Denmark, Dept Syst Biol, Ctr Biol Sequence Anal, DK-2800 Lyngby, Denmark. Amer Museum Nat Hist, Sackler Inst Comparat Genom, New York, NY 10024 USA. Amer Museum Nat Hist, Dept Invertebrate Zool, New York, NY 10024 USA. Arizona State Univ, Sch Life Sci, Tempe, AZ 85287 USA. Stanford Univ, Program Biomed Informat, Stanford, CA 94305 USA. Univ Queensland, Inst Mol Biosci, St Lucia, Qld 4072, Australia. Virginia Bioinformat Inst, Blacksburg, VA 24061 USA. Johns Hopkins Univ, Sch Med, Div Allergy & Clin Immunol, Baltimore, MD 21205 USA. SUNY Stony Brook, Dept Ecol & Evolut, Stony Brook, NY 11794 USA. Univ Oxford, Lawand Emerging Technol, Ctr Hlth, Oxford OX3 7LF, England. Genet Alliance, London N1 3QP, England. Univ Oxford, Ethox Ctr, Nuffield Dept Populat Hlth, Oxford OX3 7LF, England. Johns Hopkins Univ, Sch Med, Baltimore, MD 21205 USA. Univ Wisconsin, Morgridge Inst Res, Dept Med Hist & Bioeth, Madison, WI 53706 USA. Univ Wisconsin, Sch Law, Madison, WI 53706 USA. NHGRI, US Natl Inst Hlth, Ctr Res Genom & Global Hlth, Bethesda, MD 20892 USA. Duke Univ, Dept African & African Amer Studies, Durham, NC 27708 USA. Univ Penn, Sch Med, Dept Genet, Philadelphia, PA 19104 USA. Univ Barcelona, Dept Psychiat & Clin Psychobiol, Barcelona 08035, Spain. Univ Barcelona, Inst Brain Cognit & Behav IR3C, Barcelona 08035, Spain. Univ Oxford, John Radcliffe Hosp, Canc & Immunogenet Lab, Oxford OX3 9DS, England. Univ Antioquia, Inst Biol, Lab Mol Genet, Medellin, Colombia. Peking Univ, Shenzhen Hosp, Shenzhen 518036, Peoples R China. Chinese Acad Med Sci, Inst Med Biol, Kunming 650118, Peoples R China. Peking Union Med Coll, Kunming 650118, Peoples R China. Univ Salamanca, Inst Biomed Res Salamanca IBSAL, Ctr Invest Canc IBMCC CSIC USAL, Inst Biol Mol & Celular Canc, Salamanca 37007, Spain. Univ Salamanca, Natl DNA Bank Carlos 3, Salamanca 37007, Spain. Ponce Hlth Sci Univ, Ponce Res Inst, Ponce, PR 00716 USA. Univ W Indies, Res Inst Trop Med, Chron Dis Res Ctr, Mona, Jamaica. Univ W Indies, Fac Med Sci, Mona, Jamaica. Univ W Indies, Res Inst Trop Med, Trop Metab Res Unit, Mona, Jamaica. Int Ctr Diarrhoeal Dis Res, Dhaka, Bangladesh. Xishuangbanna Hlth Sch, Xishuangbanna 666100, Peoples R China. Irrua Specialist Teaching Hosp, Edo, Edo State, Nigeria. Redeemers Univ, Ede, Ogun State, Nigeria. Harvard TH Chan Sch Publ Hlth, Boston, MA 02115 USA. MRC Unit, Banjul, Gambia. Univ London Imperial Coll Sci Technol & Med, NHLI, Hammersmith Hosp, London SW7 2AZ, England. Univ Oxford, Clin Res Unit, Ctr Trop Med, Ho Chi Minh City, Vietnam. Univ Melbourne, Peter Doherty Inst Infect & Immun, Melbourne, Vic 3000, Australia. Kenema Govt Hosp, Minist Hlth & Sanitat, Kenema, Sierra Leone. Tulane Univ, Hlth Sci Ctr, New Orleans, LA 70118 USA. Univ Peruana Cayetano Heredia, Fac Ciencias & Filosofia, Lab Invest & Desarrollo, Lima, Peru. Ctr Noncommunicable Dis, Karachi, Pakistan. Univ Penn, Perelman Sch Med, Dept Epidemiol & Biostat, Philadelphia, PA 19104 USA. NHGRI, US Natl Inst Hlth, Bethesda, MD 20892 USA. Wellcome Trust Res Labs, London NW1 2BE, England. James D Watson Inst Genome Sci, Hangzhou 310008, Zhejiang, Peoples R China. |
| Keywords | GENOME-WIDE ASSOCIATION COMPLEMENT FACTOR-H MACULAR DEGENERATION POPULATION HISTORY BAYES FACTORS MUTATION DISEASE VARIANT SUSCEPTIBILITY INDIVIDUALS |
| Issue Date | 2015 |
| Publisher | NATURE |
| Citation | NATURE.2015,526,(7571),68-+. |
| 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. |
| URI | http://hdl.handle.net/20.500.11897/439422 |
| ISSN | 0028-0836 |
| DOI | 10.1038/nature15393 |
| Indexed | SCI(E) |
| Appears in Collections: | 深圳医院 |
