IFunMed: Integrative functional mediation analysis of GWAS and eQTL studies.

ABSTRACT: Genome-wide association studies (GWAS) have successfully identified thousands of genetic variants contributing to disease and other phenotypes. However, significant obstacles hamper our ability to elucidate causal variants, identify genes affected by causal variants, and characterize the mechanisms by which genotypes influence phenotypes. The increasing availability of genome-wide functional annotation data is providing unique opportunities to incorporate prior information into the analysis of GWAS to better understand the impact of variants on disease etiology. Although there have been many advances in incorporating prior information into prioritization of trait-associated variants in GWAS, functional annotation data have played a secondary role in the joint analysis of GWAS and molecular

SUBMITTER: Rojo C 

PROVIDER: S-EPMC6788777 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature