Phenotype-specific enrichment of Mendelian disorder genes near GWAS regions across 62 complex traits
Malika Kumar Freund, Kathryn S. Burch, Huwenbo Shi, Nicholas Mancuso, Gleb Kichaev, Kristina M. Garske, David Z. Pan, Zong Miao, Karen L. Mohlke, Markku Laakso, Päivi Pajukanta, Bogdan Paşaniuc, 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.
The American Journal of Human Genetics · Oct 1, 2018Peer-reviewedGenetics