The penetrance of rare variants in cardiomyopathy-associated genes: a cross-sectional approach to estimate penetrance for secondary findings
Kathryn A. McGurk, Xiaolei Zhang, Pantazis I. Theotokis, Kate L. Thomson, Andrew Robert Harper, Rachel J. Buchan, Erica Mazaika, Elizabeth Ormondroyd, William T. Wright, Daniela Macaya, Chee Jian Pua, Birgit Funke, Daniel G. MacArthur, Sanjay Kumar Prasad, Stuart A. Cook, , James S. Ware
This paper estimates the penetrance of rare variants in cardiomyopathy genes using cross-sectional data from genetic testing, finding substantial penetrance for dominant cardiomyopathies and variant-specific differences.
The American Journal of Human Genetics · Aug 30, 2023Peer-reviewedGenetic & Genomic Medicine