A robust GWSS method to simultaneously detect rare and common variants for complex disease.

ABSTRACT: The rapid advances in sequencing technologies and the resulting next-generation sequencing data provide the opportunity to detect disease-associated variants with a better solution, in particular for low-frequency variants. Although both common and rare variants might exert their independent effects on the risk for the trait of interest, previous methods to detect the association effects rarely consider them simultaneously. We proposed a class of test statistics, the generalized weighted-sum statistic (GWSS), to detect disease associations in the presence of common and rare variants with a case-control study design. Information of rare variants was aggregated using a weighted sum method, while signal directions and strength of the variants were considered at the same time. Permutations wer

SUBMITTER: Kao CF 

PROVIDER: S-EPMC4399906 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature