Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database. - Gudmundsson S; Singer-Berk M; Stenton SL; Goodrich JK; Wilson MW; Einson J; Watts NA; Lappalainen T; Rehm HL; MacArthur DG; O'Donnell-Luria A (Nature communications, 2025)