Gene-set association tests for next-generation sequencing data.

ABSTRACT:

Motivation

Recently, many methods have been developed for conducting rare-variant association studies for sequencing data. These methods have primarily been based on gene-level associations but have not been proven to be as effective as expected. Gene-set-level tests have shown great advantages over gene-level tests in terms of power and robustness, because complex diseases are often caused by multiple genes that comprise of biological gene sets.

Results

Here, we propose several novel gene-set tests that employ rapid and efficient dimensionality reduction. The performance of these tests was investigated using extensive simulations and application to 1058 whole-exome sequences from a Korean population. We identified some known pathways and novel pathways whose rare or common

SUBMITTER: Lee J 

PROVIDER: S-EPMC5013913 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature