GeneticsbioRxivPreprint
Optimizing clinical interpretability of functional evidence in epilepsy-related ion channel variants
Shridhar Parthasarathy, Stacey R. Cohen, Eryn Fitch…·Ingo Helbig
The paper develops a Bayesian framework to integrate functional evidence into clinical variant interpretation for epilepsy-related ion channel genes, identifying key parameters that influence pathogenicity classification.