GeneticsJournal of Medical GeneticsPeer-reviewed
Data-driven modelling of mutational hotspots and in-silico predictors in hypertrophic cardiomyopathy
Adam Waring, Andrew Robert Harper, Silvia Salatino…·Martin Farrall
The paper introduces methods to improve disease-gene association and variant pathogenicity interpretation by incorporating missense residue position information.
9 citations