publication . Other literature type . Article . 2004

The effects of human population structure on large genetic association studies.

Michael S. Phillips; Lon R. Cardon; Peter Donnelly; Jonathan Marchini;
Open Access
  • Published: 28 Mar 2004
  • Publisher: Springer Science and Business Media LLC
  • Country: United Kingdom
Abstract
Large-scale association studies hold substantial promise for unraveling the genetic basis of common human diseases. A well-known problem with such studies is the presence of undetected population structure, which can lead to both false positive results and failures to detect genuine associations. Here we examine approximately 15,000 genome-wide single-nucleotide polymorphisms typed in three population groups to assess the consequences of population structure on the coming generation of association studies. The consequences of population structure on association outcomes increase markedly with sample size. For the size of study needed to detect typical genetic ef...
Subjects
free text keywords: Genetics, Genetic association, Sample size determination, Population, education.field_of_study, education, Linkage disequilibrium, Quantitative trait locus, Genetic variation, Genetic marker, Population genetics, Biology
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