دورية أكاديمية
أعرض في EDS

Integrating common and rare genetic variation in diverse human populations.

التفاصيل البيبلوغرافية
العنوان: Integrating common and rare genetic variation in diverse human populations.
المؤلفون: Altshuler DM, Gibbs RA, Peltonen L, Altshuler DM, Gibbs RA, Peltonen L, Dermitzakis E, Schaffner SF, Yu F, Peltonen L, Dermitzakis E, Bonnen PE, Altshuler DM, Gibbs RA, de Bakker PI, Deloukas P, Gabriel SB, Gwilliam R, Hunt S, Inouye M, Jia X, Palotie A, Parkin M, Whittaker P, Yu F, Chang K, Hawes A, Lewis LR, Ren Y, Wheeler D, Gibbs RA, Muzny DM, Barnes C, Darvishi K, Hurles M, Korn JM, Kristiansson K, Lee C, McCarrol SA, Nemesh J, Dermitzakis E, Keinan A, Montgomery SB, Pollack S, Price AL, Soranzo N, Bonnen PE, Gibbs RA, Gonzaga-Jauregui C, Keinan A, Price AL, Yu F, Anttila V, Brodeur W, Daly MJ, Leslie S, McVean G, Moutsianas L, Nguyen H, Schaffner SF, Zhang Q, Ghori MJ, McGinnis R, McLaren W, Pollack S, Price AL, Schaffner SF, Takeuchi F, Grossman SR, Shlyakhter I, Hostetter EB, Sabeti PC, Adebamowo CA, Foster MW, Gordon DR, Licinio J, Manca MC, Marshall PA, Matsuda I, Ngare D, Wang VO, Reddy D, Rotimi CN, Royal CD, Sharp RR, Zeng C, Brooks LD, McEwen JE
مؤلفون مشاركون: International HapMap 3 Consortium; Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02138, USA. altshuler@molbio.mgh.harvard.edu
المصدر: Nature [Nature] 2010 Sep 02; Vol. 467 (7311), pp. 52-8.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE
أسماء مطبوعة: Publication: Basingstoke : Nature Publishing Group
Original Publication: London, Macmillan Journals ltd.
مواضيع طبية MeSH: DNA Copy Number Variations* , Genome, Human* , Polymorphism, Single Nucleotide*, Population Groups/*genetics, Human Genome Project ; Humans
مستخلص: Despite great progress in identifying genetic variants that influence human disease, most inherited risk remains unexplained. A more complete understanding requires genome-wide studies that fully examine less common alleles in populations with a wide range of ancestry. To inform the design and interpretation of such studies, we genotyped 1.6 million common single nucleotide polymorphisms (SNPs) in 1,184 reference individuals from 11 global populations, and sequenced ten 100-kilobase regions in 692 of these individuals. This integrated data set of common and rare alleles, called 'HapMap 3', includes both SNPs and copy number polymorphisms (CNPs). We characterized population-specific differences among low-frequency variants, measured the improvement in imputation accuracy afforded by the larger reference panel, especially in imputing SNPs with a minor allele frequency of
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معلومات مُعتمدة: P30 DK043351 United States DK NIDDK NIH HHS; 068545/Z/02 United Kingdom WT_ Wellcome Trust; 082371 United Kingdom WT_ Wellcome Trust; 068545 United Kingdom WT_ Wellcome Trust; 077014 United Kingdom WT_ Wellcome Trust; G0000934 United Kingdom MRC_ Medical Research Council; 077011 United Kingdom WT_ Wellcome Trust; 076113 United Kingdom WT_ Wellcome Trust; U54 HG003273 United States HG NHGRI NIH HHS; 091746 United Kingdom WT_ Wellcome Trust; 089062 United Kingdom WT_ Wellcome Trust; United Kingdom WT_ Wellcome Trust; 089061 United Kingdom WT_ Wellcome Trust
فهرسة مساهمة: Indexing Agency: NLM Local ID #: UKMS36328.
تواريخ الأحداث: Date Created: 20100903 Date Completed: 20100924 Latest Revision: 20230602
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC3173859
DOI: 10.1038/nature09298
PMID: 20811451
قاعدة البيانات: MEDLINE
الوصف
تدمد:1476-4687
DOI:10.1038/nature09298