An efficient and flexible test for rare variant effects.

ABSTRACT: Since it has been claimed that rare variants with extremely small allele frequency play a crucial role in complex traits, there is great demand for the development of a powerful test for detecting these variants. However, due to the extremely low frequencies of rare variants, common statistical testing methods do not work well, which has motivated recent extensive research on developing an efficient testing procedure for rare variant effects. Many studies have suggested effective testing procedures with reasonably high power under some presumed assumptions of parametric statistical models. However, if the parametric assumptions are violated, these tests are possibly under-powered. In this paper, we develop an optimal, powerful statistical test called the aggregated conditional score test (

SUBMITTER: Sugasawa S 

PROVIDER: S-EPMC5477370 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature