Rare penetrant mutations confer severe risk of common diseases
Petko P. Fiziev, Jeremy F. McRae, Jacob C. Ulirsch, Jacqueline S. Dron, Tobias Hamp, Yanshen Yang, Pierrick Wainschtein, Zijian Ni, Joshua G. Schraiber, Hong Chao Gao, Dylan M. Cable, Yair Field, François Aguet, Marc Fasnacht, Ahmed A. Metwally, , Kyle Kai‐How Farh
The paper identifies rare variant polygenic risk scores as more effective than common variant polygenic risk scores in identifying individuals with outlier phenotypes in common human diseases and complex traits.
Science · Jun 1, 2023Peer-reviewedGenetic & Genomic Medicine