Integrating common and rare genetic variation in diverse human populations.

Journal Article (Journal Article)

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

Full Text

Duke Authors

Cited Authors

  • International HapMap 3 Consortium, ; Altshuler, DM; Gibbs, RA; Peltonen, L; Dermitzakis, E; Schaffner, SF; Yu, F; Bonnen, PE; de Bakker, PIW; Deloukas, P; Gabriel, SB; Gwilliam, R; Hunt, S; Inouye, M; Jia, X; Palotie, A; Parkin, M; Whittaker, P; Chang, K; Hawes, A; Lewis, LR; Ren, Y; Wheeler, D; Muzny, DM; Barnes, C; Darvishi, K; Hurles, M; Korn, JM; Kristiansson, K; Lee, C; McCarrol, SA; Nemesh, J; Keinan, A; Montgomery, SB; Pollack, S; Price, AL; Soranzo, N; Gonzaga-Jauregui, C; Anttila, V; Brodeur, W; Daly, MJ; Leslie, S; McVean, G; Moutsianas, L; Nguyen, H; Zhang, Q; Ghori, MJR; McGinnis, R; McLaren, W; 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

Published Date

  • September 2010

Published In

Volume / Issue

  • 467 / 7311

Start / End Page

  • 52 - 58

PubMed ID

  • 20811451

Pubmed Central ID

  • PMC3173859

Electronic International Standard Serial Number (EISSN)

  • 1476-4687

International Standard Serial Number (ISSN)

  • 0028-0836

Digital Object Identifier (DOI)

  • 10.1038/nature09298


  • eng