Structural Evaluation of RYR2-CPVT Missense Variants and Continuous Bayesian Estimates of their Penetrance
Kohei Yamauchi, Matthew Ku, Devyn Mitchell, Alex Shen, Kundivy Dauda, Loren R. Vanags, Jeffrey Schmeckpeper, Björn C. Knollmann, Matthew J. O’Neill, Brett M. Kroncke
The paper evaluates RYR2-CPVT missense variants using Bayesian penetrance analysis and finds it outperforms existing tools.
medRxiv · Mar 20, 2025 · PreprintGenetic & Genomic Medicine