Gene- and domain-aware calibration increases the clinical utility of variant effect predictors
Y P Chen, Shawn Fayer, Shantanu Jain, Mariam Benazouz, Yuriy Sverchkov, Jeremy Stone, Himanshu Sharma, Timothy R. Bergquist, Ross Stewart, Sean David Mooney, Mark W. Craven, Predrag Radivojac A, Lea M. Starita, Douglas M. Fowler, Vikas Rao Pejaver
This paper improves variant effect predictors by calibrating them gene- and domain-aware, increasing evidence assignment and accuracy for variant classification.
bioRxiv · Mar 31, 2026 · PreprintGenetics