Title | Integrating common and rare genetic variation in diverse human populations. |
Publication Type | Journal Article |
Year of Publication | 2010 |
Authors | 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, PIW, 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, MJR, 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, MCristina, Marshall, PA, Matsuda, I, Ngare, D, Wang, VOta, Reddy, D, Rotimi, CN, Royal, CD, Sharp, RR, Zeng, C, Brooks, LD, McEwen, JE |
Corporate Authors | International HapMap 3 Consortium |
Journal | Nature |
Volume | 467 |
Issue | 7311 |
Pagination | 52-8 |
Date Published | 2010 Sep 02 |
ISSN | 1476-4687 |
Keywords | DNA Copy Number Variations, Genome, Human, Human Genome Project, Humans, Polymorphism, Single Nucleotide, Population Groups |
Abstract | 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 |
DOI | 10.1038/nature09298 |
Alternate Journal | Nature |
PubMed ID | 20811451 |
PubMed Central ID | PMC3173859 |
Grant List | P30 DK043351 / DK / NIDDK NIH HHS / United States 068545/Z/02 / WT_ / Wellcome Trust / United Kingdom 082371 / WT_ / Wellcome Trust / United Kingdom 068545 / WT_ / Wellcome Trust / United Kingdom 077014 / WT_ / Wellcome Trust / United Kingdom G0000934 / MRC_ / Medical Research Council / United Kingdom 077011 / WT_ / Wellcome Trust / United Kingdom 076113 / WT_ / Wellcome Trust / United Kingdom U54 HG003273 / HG / NHGRI NIH HHS / United States 091746 / WT_ / Wellcome Trust / United Kingdom 089062 / WT_ / Wellcome Trust / United Kingdom / WT_ / Wellcome Trust / United Kingdom 089061 / WT_ / Wellcome Trust / United Kingdom |
Integrating common and rare genetic variation in diverse human populations.
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