An exponential combination procedure for set-based association tests in sequencing studies.

ABSTRACT: State-of-the-art next-generation-sequencing technologies can facilitate in-depth explorations of the human genome by investigating both common and rare variants. For the identification of genetic factors that are associated with disease risk or other complex phenotypes, methods have been proposed for jointly analyzing variants in a set (e.g., all coding SNPs in a gene). Variants in a properly defined set could be associated with risk or phenotype in a concerted fashion, and by accumulating information from them, one can improve power to detect genetic risk factors. Many set-based methods in the literature are based on statistics that can be written as the summation of variant statistics. Here, we propose taking the summation of the exponential of variant statistics as the set summary for a

SUBMITTER: Chen LS 

PROVIDER: S-EPMC3516612 | biostudies-literature | 2012 Dec

REPOSITORIES: biostudies-literature