Article
Assessing association between protein truncating variants and quantitative traits.
Bioinformatics (Oxford, England) - 1 Oct 2013
Rivas Manuel A, Pirinen Matti, Neville Matthew J, Gaulton Kyle J, Moutsianas Loukas, Lindgren Cecilia M, Karpe Fredrik, McCarthy Mark I, Donnelly Peter
Abstract excerpt
MOTIVATION: In sequencing studies of common diseases and quantitative traits, power to test rare and low frequency variants individually is weak. To improve power, a common approach is to combine statistical evidence from several genetic variants in a region. Major challenges are how to do the combining and which statistical framework to use. General approaches for testing association between rare variants and...
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