Article
Detecting low frequent loss-of-function alleles in genome wide association studies with red hair color as example.
PloS one - 1 Jan 2011
Liu Fan, Struchalin Maksim V, Duijn Kate van, Hofman Albert, Uitterlinden André G, Duijn Cornelia van, Aulchenko Yurii S, Kayser Manfred
Abstract excerpt
Multiple loss-of-function (LOF) alleles at the same gene may influence a phenotype not only in the homozygote state when alleles are considered individually, but also in the compound heterozygote (CH) state. Such LOF alleles typically have low frequencies and moderate to large effects. Detecting such variants is of interest to the genetics community, and relevant statistical methods for detecting and quantifying...
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