Testing rare variants for association with diseases: a Bayesian marker selection approach.

摘要: It has been a research focus to uncover the genetic determination of complex diseases caused by rare variants. As vast majority genomic variants represent background variation, highlighting potentially causal mutations through weighting scheme is critical success aimed association studies. In this study, we propose novel Bayesian marker selection approach perform weighting-based test. approach, individual signal and its direction are used weight addition, predicted biological function taken as prior information direct likely Simulation studies show that proposed method improved power over several existing methods in certain conditions. Analyses two empirical datasets demonstrate applicability.