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Integrating common and rare genetic variation in diverse human populations

Altshuler, David M; Gibbs, R A; Dermitzakis, Emmanouil; Schaffner, Stephen F; Yu, Fuli; Bonnen, Penelope; de Bakker, Paul I W; Deloukas , Panos; Gabriel, Stacey B; Gwilliam, Rhian; Licinio, Julio


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...[Show more]

CollectionsANU Research Publications
Date published: 2010
Type: Journal article
Source: Nature
DOI: 10.1038/nature09298


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