Sarath B. Krishnamurthy

This paper integrates monogenic, polygenic, and clinical risk factors to predict disease risk for carriers of rare variants, identifying elevated risk in 18.22% of UK Biobank participants for breast cancer, familial hypercholesterolemia, and colorectal cancer.

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.

The paper examines how common variants in the calcium-sensing receptor gene influence the relationship between serum calcium levels and coronary artery disease risk.