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.
Predict pathogenic and benign missense variant status
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.
Predict pathogenic and benign missense variant status
MIT License