An integrative functional genomics framework for effective identification of novel regulatory variants in genome-phenome studies.

ABSTRACT:

Background

Genome-phenome studies have identified thousands of variants that are statistically associated with disease or traits; however, their functional roles are largely unclear. A comprehensive investigation of regulatory mechanisms and the gene regulatory networks between phenome-wide association study (PheWAS) and genome-wide association study (GWAS) is needed to identify novel regulatory variants contributing to risk for human diseases.

Methods

In this study, we developed an integrative functional genomics framework that maps 215,107 significant single nucleotide polymorphism (SNP) traits generated from the PheWAS Catalog and 28,870 genome-wide significant SNP traits collected from the GWAS Catalog into a global human genome regulatory map via incorporating various f

SUBMITTER: Zhao J 

PROVIDER: S-EPMC5789733 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature