Analyzing and reconciling colocalization and transcriptome-wide association studies from the perspective of inferential reproducibility.

ABSTRACT: Transcriptome-wide association studies and colocalization analysis are popular computational approaches for integrating genetic-association data from molecular and complex traits. They show the unique ability to go beyond variant-level genetic-association evidence and implicate critical functional units, e.g., genes, in disease etiology. However, in practice, when the two approaches are applied to the same molecular and complex-trait data, the inference results can be markedly different. This paper systematically investigates the inferential reproducibility between the two approaches through theoretical derivation, numerical experiments, and analyses of four complex trait GWAS and GTEx eQTL data. We identify two classes of inconsistent inference results. We find that the first class of inc

SUBMITTER: Hukku A 

PROVIDER: S-EPMC9118134 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature