Integrating common and rare genetic variation in diverse human populations View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2010-09

AUTHORS

David M. Altshuler, Richard A. Gibbs, Leena Peltonen, David M. Altshuler, Richard A. Gibbs, Leena Peltonen, Emmanouil Dermitzakis, Stephen F. Schaffner, Fuli Yu, Leena Peltonen, Emmanouil Dermitzakis, Penelope E. Bonnen, David M. Altshuler, Richard A. Gibbs

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 ≤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. More... »

PAGES

52-58

Journal

TITLE

Nature

ISSUE

7311

VOLUME

467

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/nature09298

DOI

http://dx.doi.org/10.1038/nature09298

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1052674054

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/20811451


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