Systematic functional regulatory assessment of disease-associated variants.

ABSTRACT: Genome-wide association studies have discovered many genetic loci associated with disease traits, but the functional molecular basis of these associations is often unresolved. Genome-wide regulatory and gene expression profiles measured across individuals and diseases reflect downstream effects of genetic variation and may allow for functional assessment of disease-associated loci. Here, we present a unique approach for systematic integration of genetic disease associations, transcription factor binding among individuals, and gene expression data to assess the functional consequences of variants associated with hundreds of human diseases. In an analysis of genome-wide binding profiles of NFκB, we find that disease-associated SNPs are enriched in NFκB binding regions overall, and specifical

SUBMITTER: Karczewski KJ 

PROVIDER: S-EPMC3677437 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature