Integrating common and rare genetic variation in diverse human populations.

TitleIntegrating common and rare genetic variation in diverse human populations.
Publication TypeJournal Article
Year of Publication2010
AuthorsAltshuler, 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, DA, 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 AuthorsInternational HapMap 3 Consortium
Date Published2010 Sep 02
KeywordsDNA Copy Number Variations, Genome, Human, Human Genome Project, Humans, Polymorphism, Single Nucleotide, Population Groups

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

Alternate JournalNature
PubMed ID20811451
PubMed Central IDPMC3173859
Grant ListP30 DK043351 / DK / NIDDK NIH HHS / United States
082371 / / Wellcome Trust / United Kingdom
077011 / / Wellcome Trust / United Kingdom
U54 HG003273 / HG / NHGRI NIH HHS / United States
076113 / / Wellcome Trust / United Kingdom
068545 / / Wellcome Trust / United Kingdom
091746 / / Wellcome Trust / United Kingdom
089062 / / Wellcome Trust / United Kingdom
077014 / / Wellcome Trust / United Kingdom
089061 / / Wellcome Trust / United Kingdom
068545/Z/02 / / Wellcome Trust / United Kingdom
G0000934 / / Medical Research Council / United Kingdom