The Gene Expression Landscape of Disease Genes.

ABSTRACT: Fine-mapping and gene-prioritisation techniques applied to the latest Genome-Wide Association Study (GWAS) results have prioritised hundreds of genes as causally associated with disease. Here we leverage these recently compiled lists of high-confidence causal genes to interrogate where in the body disease genes operate, which, in previous studies, has mostly been investigated by testing for enrichment of GWAS signal among genes with cell/tissue specific expression. By integrating GWAS summary statistics, gene prioritisation results, and RNA-seq data from 46 tissues and 204 cell types, we directly analyse the gene expression of putative disease genes across the body in relation to 11 major diseases and cancers. In tissues and cell types with established disease relevance, disease genes show

SUBMITTER: Garcia-Gonzalez J 

PROVIDER: S-EPMC11213058 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature