Genetic modifiers and ascertainment drive variable expressivity of complex disorders
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Jiawan Sun, Serena Noss, Deepro Banerjee, Matthew T. Oetjens, Hermela Shimelis, Cora M. Taylor, Vijay Kumar Pounraja, Hyebin Song, Laura Rohan, Emily Huber, Laïla El Khattabi, , Santhosh Girirajan
The paper examines how modifier variants affect clinical outcomes in individuals with primary disease variants, showing context-dependent phenotypic associations and synergistic interactions.
Cell · Oct 7, 2025Peer-reviewedGenetic & Genomic Medicine