JBASE: Joint Bayesian Analysis of Subphenotypes and Epistasis.

ABSTRACT:

Motivation

Rapid advances in genotyping and genome-wide association studies have enabled the discovery of many new genotype-phenotype associations at the resolution of individual markers. However, these associations explain only a small proportion of theoretically estimated heritability of most diseases. In this work, we propose an integrative mixture model called JBASE: joint Bayesian analysis of subphenotypes and epistasis. JBASE explores two major reasons of missing heritability: interactions between genetic variants, a phenomenon known as epistasis and phenotypic heterogeneity, addressed via subphenotyping.

Results

Our extensive simulations in a wide range of scenarios repeatedly demonstrate that JBASE can identify true underlying subphenotypes, including their associate

SUBMITTER: Colak R 

PROVIDER: S-EPMC4708100 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature