Exploring the potential benefits of stratified false discovery rates for region-based testing of association with rare genetic variation.

ABSTRACT: When analyzing the data that arises from exome or whole-genome sequencing studies, window-based tests, (i.e., tests that jointly analyze all genetic data in a small genomic region), are very popular. However, power is known to be quite low for finding associations with phenotypes using these tests, and therefore a variety of analytic strategies may be employed to potentially improve power. Using sequencing data of all of chromosome 3 from an interim release of data on 2432 individuals from the UK10K project, we simulated phenotypes associated with rare genetic variation, and used the results to explore the window-based test power. We asked two specific questions: firstly, whether there could be substantial benefits associated with incorporating information from external annotation on the g

SUBMITTER: Xu C 

PROVIDER: S-EPMC3905218 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature