The penetrance of age-related monogenic disease depends on ascertainment context
Uyenlinh L. Mirshahi, Kevin Colclough, Caroline Fiona Wright, Andrew R. Wood, Robin N. Beaumont, Jessica Tyrrell, Thomas William Laver, Richard C. Stahl, Alicia M. Golden, Jessica Goehringer, Timothy F Frayling, Andrew Tym Hattersley, David J. Carey, Michael N. Weedon, Kashyap Amratlal Patel
The paper estimates penetrance of monogenic diabetes variants across different ascertainment contexts, finding age-related variability for HNF1A/HNF4A variants but consistent penetrance for GCK variants.
The American Journal of Human Genetics · Oct 17, 2022Peer-reviewedGenetic & Genomic Medicine