Missense variant effect pathogenicity prediction using disease specific classifiers for cardiomyopathy, epilepsy, and RASopathies. If you are here to get PathoPredictor scores for a vcf file, see prediction instructions.
Missense variant effect pathogenicity prediction using disease specific classifiers for cardiomyopathy, epilepsy, and RASopathies. If you are here to get PathoPredictor scores for a vcf file, see prediction instructions.