GsQTL: Associating genetic risk variants with gene sets by exploiting their shared variability.

ABSTRACT: To investigate the functional significance of genetic risk loci identified through genome-wide association studies (GWASs), genetic loci are linked to genes based on their capacity to account for variation in gene expression, resulting in expression quantitative trait loci (eQTL). Following this, gene set analyses are commonly used to gain insights into functionality. However, the efficacy of this approach is hampered by small effect sizes and the burden of multiple testing. We propose an alternative approach: instead of examining the cumulative associations of individual genes within a gene set, we consider the collective variation of the entire gene set. We introduce the concept of gene set QTL (gsQTL), and show it to be more adept at identifying links between genetic risk variants and s

SUBMITTER: Bouland GA 

PROVIDER: S-EPMC11429704 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature