Assessing the pathogenicity, penetrance and expressivity of putative disease-causing variants in a population setting
Caroline Fiona Wright, Ben West, Marcus A. Tuke, Samuel E. Jones, Kashyap Amratlal Patel, Thomas William Laver, Robin N. Beaumont, Jessica Tyrrell, Andrew R. Wood, Timothy M. Frayling, Andrew Tym Hattersley, Michael N. Weedon
This study uses UK Biobank data to assess the penetrance and pathogenicity of rare variants, finding reduced penetrance and variable expressivity for some clinically relevant variants.
The American Journal of Human Genetics · Jan 18, 2019Peer-reviewedGenetics