Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
Julia K. Goodrich, Moriel Singer‐Berk, Rachel Son, Abigail Sveden, Jordan C. Wood, Eleina M. England, Joanne B. Cole, Ben Weisburd, Nick Watts, Lizz Caulkins, Peter Dornbos, Ryan Koesterer, Zachary Zappala, Haichen Zhang, Kristin A. Maloney, , Kerrin S. Small
The paper evaluates penetrance and variable expressivity of monogenic metabolic conditions using exome data from 77,184 individuals, finding that monogenic variants have larger effect sizes than polygenic scores but low penetrance.
Nature Communications · Jun 9, 2021Peer-reviewedGenetic & Genomic Medicine