nAPOGEE: A machine-learning platform for clinically actionable pathogenicity assessment of all mitochondrial noncoding variants
Salvatore Daniele Bianco, Agnese Giovannetti, Marta Adinolfi, Francesco Petrizzelli, Andrea Villani, Manuel Mangoni, Tommaso Biagini, Niccolò Liorni, Alessandro Napoli, Vincent Procaccio, Marie T. Lott, Shiping Zhang, Leonardo Caporali, Daniele Ghezzi, A. Urbani, , Tommaso Mazza
nAPOGEE assesses pathogenicity of mitochondrial noncoding variants using machine learning, revealing consistent spatial correlation of predicted pathogenicity.
bioRxiv · Dec 23, 2025 · PreprintBioinformatics