Article
Inferring rare disease risk variants based on exact probabilities of sharing by multiple affected relatives.
Bioinformatics (Oxford, England) - 1 Aug 2014
Bureau Alexandre, Younkin Samuel G, Parker Margaret M, Bailey-Wilson Joan E, Marazita Mary L, Murray Jeffrey C, Mangold Elisabeth, Albacha-Hejazi Hasan, Beaty Terri H, Ruczinski Ingo
Abstract excerpt
MOTIVATION: Family-based designs are regaining popularity for genomic sequencing studies because they provide a way to test cosegregation with disease of variants that are too rare in the population to be tested individually in a conventional case-control study. RESULTS: Where only a few affected subjects per family are sequenced, the probability that any variant would be shared by all affected relatives-given it...
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