Rare penetrant mutations confer severe risk of common diseases - Fiziev, Petko P; McRae, Jeremy; Ulirsch, Jacob C; Dron, Jacqueline S; Hamp, Tobias; Yang, Yanshen; Wainschtein, Pierrick; Ni, Zijian; Schraiber, Joshua G; Gao, Hong; Cable, Dylan; Field, Yair; et al. (Science (American Association for the Advancement of Science), 2023)
Keywords: Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Multifactorial Inheritance; Mutation; Penetrance; Phenotype; Risk Factors