Benchmarking post-GWAS analysis tools in major depression: Challenges and implications.

ABSTRACT: Our knowledge of complex disorders has increased in the last years thanks to the identification of genetic variants (GVs) significantly associated with disease phenotypes by genome-wide association studies (GWAS). However, we do not understand yet how these GVs functionally impact disease pathogenesis or their underlying biological mechanisms. Among the multiple post-GWAS methods available, fine-mapping and colocalization approaches are commonly used to identify causal GVs, meaning those with a biological effect on the trait, and their functional effects. Despite the variety of post-GWAS tools available, there is no guideline for method eligibility or validity, even though these methods work under different assumptions when accounting for linkage disequilibrium and integrating molecular an

SUBMITTER: Perez-Granado J 

PROVIDER: S-EPMC9579284 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature