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Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America
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2009 (English)In: Human Mutation, ISSN 1059-7794, E-ISSN 1098-1004, Vol. 30, no 1, 69-78 p.Article in journal (Refereed) Published
Abstract [en]

To provide a resource for assessing continental ancestry in a wide variety of genetic studies, we identified, validated, and characterized a set of 128 ancestry informative markers (AIMs). The markers were chosen for informativeness, genome-wide distribution, and genotype reproducibility on two platforms (TaqMan assays and Illumina arrays). We analyzed genotyping data from 825 subjects with diverse ancestry, including European, East Asian, Amerindian, African, South Asian, Mexican, and Puerto Rican. A comprehensive set of 128 AIMs and subsets as small as 24 AIMs are shown to be useful tools for ascertaining the origin of subjects from particular continents, and to correct for population stratification in admixed population sample sets. Our findings provide general guidelines for the application of specific AIM subsets as a resource for wide application. We conclude that investigators can use TaqMan assays for the selected AIMs as a simple and cost efficient tool to control for differences in continental ancestry when conducting association studies in ethnically diverse populations.

Place, publisher, year, edition, pages
2009. Vol. 30, no 1, 69-78 p.
Keyword [en]
population structure. continental ancestry, population stratification, ancestry informative markers
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-102847DOI: 10.1002/humu.20822ISI: 000263096300010PubMedID: 18683858OAI: oai:DiVA.org:uu-102847DiVA: diva2:216888
Available from: 2009-05-12 Created: 2009-05-12 Last updated: 2010-12-14Bibliographically approved

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Alarcon-Riquelme, Marta E.
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Department of Genetics and Pathology
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