BioinformaticsNature CommunicationsPeer-reviewed
APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants
Salvatore Daniele Bianco, Luca Parca, Francesco Petrizzelli…·Tommaso Mazza
APOGEE 2 improves pathogenicity prediction for mitochondrial missense variants using a machine learning model based on ACMG/AMP guidelines and provides region-wise genome fragility assessments.
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