The landscape of regional missense mutational intolerance quantified from 730,947 exomes
Lily Wang, Katherine R. Chao, Ruchit Panchal, Calwing Liao, Haneen Abderrazzaq, Robert Ye, Patrick Schultz, John Compitello, Riley H. Grant, Jack A. Kosmicki, Ben Weisburd, William Phu, Michael W. Wilson, Kristen M. Laricchia, Julia K. Goodrich, , Kaitlin E. Samocha
The paper quantifies regional missense mutational intolerance using 730,947 exomes to identify constrained gene regions and improve variant interpretation.
bioRxiv · Apr 11, 2024 · PreprintGenomics