A framework for integrated clinical risk assessment using population sequencing data
James D. Fife, Tho Dinh Tran, Jackson R. Bernatchez, Keithen E. Shepard, Christopher Koch, Aniruddh P. Patel, Akl C. Fahed, Sarath B. Krishnamurthy, Wei Wang, Adam H. Buchanan, David J. Carey, Raghu Prasad Rao Metpally, Amit V. Khera, Matthew S. Lebo, Christopher A. Cassa
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.
medRxiv · Aug 12, 2021 · PreprintGenetic & Genomic Medicine