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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
general
Integrating common and rare genetic variation in diverse human populations
Nature, Volume 467, No. 7311, Year 2010
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Description
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#5%, and demonstrated the feasibility of imputing newly discovered CNPs and SNPs. This expanded public resource of genome variants in global populations supports deeper interrogation of genomic variation and its role in human disease, and serves as a step towards a high-resolution map of the landscape of human genetic variation. © 2010 Macmillan Publishers Limited. All rights reserved.
Authors & Co-Authors
Altshuler, David M.
Unknown Affiliation
Gibbs, Richard A.L.
Unknown Affiliation
Peltonen-Palotie, Leena Johanna
Unknown Affiliation
Schaffner, Stephen F.
Unknown Affiliation
Yu, Fuli
Unknown Affiliation
Dermitzakis, Emmanouil Theophilos
Unknown Affiliation
Bonnen, Penelope E.
Unknown Affiliation
De Bakker, Paul IW W.
Unknown Affiliation
Deloukas, Panos
Unknown Affiliation
Gabriel, Stacey Bolk
Unknown Affiliation
Gwilliam, Rhian
Unknown Affiliation
Hunt, Sarah E.
Unknown Affiliation
Inouye, Michael T.
Unknown Affiliation
Jia, Xiaoming
Unknown Affiliation
Aarno Palotie,
Unknown Affiliation
Parkin, Melissa A.
Unknown Affiliation
Whittaker, Pamela
Unknown Affiliation
Chang, Kyle
Unknown Affiliation
Hawes, Alicia
Unknown Affiliation
Lewis, Lora R.
Unknown Affiliation
Ren, Yanru
Unknown Affiliation
Wheeler, David A.
Unknown Affiliation
Muzny, Donna Marie
Unknown Affiliation
Barnes, Chris
Unknown Affiliation
Darvishi, Katayoon
Unknown Affiliation
Hurles, Matthew E.
Unknown Affiliation
Korn, Joshua M.
Unknown Affiliation
Kristiansson, Kati
Unknown Affiliation
Lee, Charles
Unknown Affiliation
McCarroll, Steven A.
Unknown Affiliation
Nemesh, James C.
Unknown Affiliation
Keinan, Alon
Unknown Affiliation
Montgomery, Stephen B.
Unknown Affiliation
Samuela Pollack,
Unknown Affiliation
Price, Alkes L.
Unknown Affiliation
Soranzo, Nicole
Unknown Affiliation
Gonzaga-Jauregui, Claudia G.
Unknown Affiliation
Anttila, Verneri
Unknown Affiliation
Brodeur, Wendy
Unknown Affiliation
Daly, Mark J.
Unknown Affiliation
Leslie, Stephen
Unknown Affiliation
McVean, Gil
Unknown Affiliation
Moutsianas, Loukas
Unknown Affiliation
Nguyen, Huy
Unknown Affiliation
Zhang, Qingrun
Unknown Affiliation
Ghori, Mohammed J.R.
Unknown Affiliation
McGinnis, Ralph E.
Unknown Affiliation
McLaren, William M.
Unknown Affiliation
Pollack, Samuela
Unknown Affiliation
Takeuchi, Fumihiko
Unknown Affiliation
Grossman, Sharon R.
Unknown Affiliation
Shlyakhter, Ilya
Unknown Affiliation
Hostetter, Elizabeth B.
Unknown Affiliation
Sabeti., Pardis C.
Unknown Affiliation
Adebamowo, Clement Adebayo
Unknown Affiliation
Foster, Morris W.
Unknown Affiliation
Gordon, Deborah R.
Unknown Affiliation
Licinio, Júlio
Unknown Affiliation
Manca, Maria Cristina
Unknown Affiliation
Marshall, Patricia A.
Unknown Affiliation
Matsuda, Ichirou
Unknown Affiliation
Ngare, Duncan K.
Unknown Affiliation
Wang, Vivian Ota
Unknown Affiliation
Reddy, Deepa
Unknown Affiliation
Rotimi, Charles N.
Unknown Affiliation
Royal, Charmaine D.M.
Unknown Affiliation
Sharp, Richard R.
Unknown Affiliation
Zeng, Changqing
Unknown Affiliation
Brooks, Denise B.
Unknown Affiliation
McEwen, Jean E.
Unknown Affiliation
Statistics
Citations: 2,831
Authors: 70
Affiliations: 25
Identifiers
Doi:
10.1038/nature09298
ISSN:
00280836
e-ISSN:
14764687
Research Areas
Genetics And Genomics
Study Design
Cross Sectional Study