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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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Detalles Bibliográficos
Autores principales: Liu, Fan, Struchalin, Maksim V., van Duijn, Kate, Hofman, Albert, Uitterlinden, André G., van Duijn, Cornelia, Aulchenko, Yurii S., Kayser, Manfred
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3226656/
https://www.ncbi.nlm.nih.gov/pubmed/22140526
http://dx.doi.org/10.1371/journal.pone.0028145