GeneticsThe American Journal of Human GeneticsPeer-reviewed
Phenotype-specific enrichment of Mendelian disorder genes near GWAS regions across 62 complex traits
Malika Kumar Freund, Kathryn S. Burch, Huwenbo Shi…·Valerie A. Arboleda
The paper quantifies the overlap between GWAS genes for 62 complex traits and Mendelian disorder genes, finding significant enrichment and elevated effect sizes for phenotypically-matched genes.
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