Article
The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease.
PLoS genetics - 1 Apr 2015
Moutsianas Loukas, Agarwala Vineeta, Fuchsberger Christian, Flannick Jason, Rivas Manuel A, Gaulton Kyle J, Albers Patrick K, McVean Gil, Boehnke Michael, Altshuler David, McCarthy Mark I
Abstract excerpt
Genome and exome sequencing in large cohorts enables characterization of the role of rare variation in complex diseases. Success in this endeavor, however, requires investigators to test a diverse array of genetic hypotheses which differ in the number, frequency and effect sizes of underlying causal variants. In this study, we evaluated the power of gene-based association methods to interrogate such hypotheses,...
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