APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variantsSalvatore Daniele Bianco, Tommaso Mazza, Vincent Procaccio et al.|Nature Communications|2023Cited by 36
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Global prevalence of hereditary hemorrhagic telangiectasia-associated variants estimated by analysis of large-scale genomic databasesEleonora Gaetani, Tommaso Mazza, Agnese Giovannetti et al.|Journal of Thrombosis and Haemostasis|2026Cited by 1
nAPOGEE: A machine-learning platform for clinically actionable pathogenicity assessment of all mitochondrial noncoding variantsSalvatore Daniele Bianco, Andrea Villani, Tommaso Biagini et al.|bioRxiv (Cold Spring Harbor Laboratory)|2025Cited by 0