Rare Variant Pathogenicity Triage and Inclusion of Synonymous Variants Improves Analysis of Disease Associations
Ridge Dershem, Raghu Prasad Rao Metpally, Kirk Jeffreys, Sarath B. Krishnamurthy, Diane T. Smelser, Michal Hershfinkel, David J. Carey, Janet D. Robishaw, Gerda E. Breitwieser
The paper uses rare variant analyses to identify disease associations for understudied GPCRs, finding that rare synonymous variants can contribute to disease associations similar to loss-of-function and missense variants.
Journal of Biological Chemistry · Oct 18, 2019Peer-reviewedGenetics