Detecting Low Frequent Loss-of-Function Alleles in Genome Wide Association Studies with Red Hair Color as Example

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 suc...

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Main Authors: Liu, Fan, Struchalin, Maksim V., van Duijn, Kate, Hofman, Albert, Uitterlinden, André G., van Duijn, Cornelia, Aulchenko, Yurii S., Kayser, Manfred
Formato: Artigo
Idioma:Inglês
Publicado: Public Library of Science 2011
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3226656/
https://ncbi.nlm.nih.gov/pubmed/22140526
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0028145
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