MendelVar: Gene Prioritization at GWAS Loci Using Phenotypic Enrichment of Mendelian Disease Genes

MendelVar is a new webserver designed to enhance the interpretation of genetic associations from Genome-Wide Association Studies (GWAS) by incorporating knowledge from Mendelian disease research. It achieves this by querying genomic intervals against an integrated database to identify overlaps with genes associated with Mendelian diseases and checking for enrichment of related ontology terms. Additionally, MendelVar provides a list of pathogenic variants from ClinVar. The inclusion of MendelVar's information in post-GWAS annotation can strengthen the evidence for the causal importance of certain genes, which is also beneficial for drug discovery. The utility of MendelVar was demonstrated using GWAS summary statistics for male-pattern baldness, intelligence, and atopic dermatitis, where it helped prioritize candidate genes linked to enriched ontology terms. MendelVar is available for public use.