Genetic & Genomic MedicineBMC GenomicsPeer-reviewed
PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing
Ryo Kurosawa, Kei Iida, Masahiko Ajiro…·Masatoshi Hagiwara
PDIVAS identifies pathogenic deep-intronic variants causing aberrant splicing with high sensitivity using an ensemble machine-learning model.