Integrated rare variant-based risk gene prioritization in disease case-control sequencing studies.

ABSTRACT: Rare variants of major effect play an important role in human complex diseases and can be discovered by sequencing-based genome-wide association studies. Here, we introduce an integrated approach that combines the rare variant association test with gene network and phenotype information to identify risk genes implicated by rare variants for human complex diseases. Our data integration method follows a 'discovery-driven' strategy without relying on prior knowledge about the disease and thus maintains the unbiased character of genome-wide association studies. Simulations reveal that our method can outperform a widely-used rare variant association test method by 2 to 3 times. In a case study of a small disease cohort, we uncovered putative risk genes and the corresponding rare variants that m

SUBMITTER: Lin JR 

PROVIDER: S-EPMC5760082 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature