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ABSTRACT: Background
Therapeutic targets supported by genetic evidence from genome-wide association studies (GWAS) show higher probability of success in clinical trials. GWAS is a powerful approach to identify links between genetic variants and phenotypic variation; however, identifying the genes driving associations identified in GWAS remains challenging. Integration of molecular quantitative trait loci (molQTL) such as expression QTL (eQTL) using mendelian randomization (MR) and colocalization analyses can help with the identification of causal genes. Careful interpretation remains warranted because eQTL can affect the expression of multiple genes within the same locus.Methods
We used a combination of genomic features that include variant annotation, activity-by-contact maps, MR, a
SUBMITTER: Lessard S
PROVIDER: S-EPMC11577829 | biostudies-literature | 2024 Nov
REPOSITORIES: biostudies-literature