Gene-based association tests using GWAS summary statistics and incorporating eQTL.

ABSTRACT: Although genome-wide association studies (GWAS) have been successfully applied to a variety of complex diseases and identified many genetic variants underlying complex diseases via single marker tests, there is still a considerable heritability of complex diseases that could not be explained by GWAS. One alternative approach to overcome the missing heritability caused by genetic heterogeneity is gene-based analysis, which considers the aggregate effects of multiple genetic variants in a single test. Another alternative approach is transcriptome-wide association study (TWAS). TWAS aggregates genomic information into functionally relevant units that map to genes and their expression. TWAS is not only powerful, but can also increase the interpretability in biological mechanisms of identified

SUBMITTER: Cao X 

PROVIDER: S-EPMC8894384 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature