Integrating common and rare genetic variation in diverse human populations

Altshuler, D. M.

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Title		Integrating common and rare genetic variation in diverse human populations
Author		Altshuler, D. M.
Collaboration		Collaboration With : Dermitzakis, Emmanouil / Montgomery, Stephen
Published in		Nature. 2010, vol. 467, no. 7311, p. 52-58
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.
Keywords		DNA Copy Number Variations — Genome, Human — Human Genome Project — Humans — Polymorphism, Single Nucleotide — Population Groups/genetics
Identifiers		DOI: 10.1038/nature09298 PMID: 20811451
Full text		Article (Author postprint) - Free access Other version: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3173859/pdf/ukmss-36328.pdf
Structures		Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement
Research group		Population Genomics and Genetics of Complex Traits (892)
Citation (ISO format)		ALTSHULER, D. M. Integrating common and rare genetic variation in diverse human populations. In: Nature, 2010, vol. 467, n° 7311, p. 52-58. https://archive-ouverte.unige.ch/unige:20600