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Article

APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants.

Nature communications - 19 Aug 2023

Bianco Salvatore Daniele, Parca Luca, Petrizzelli Francesco, Biagini Tommaso, Giovannetti Agnese, Liorni Niccolò, Napoli Alessandro, Carella Massimo, Procaccio Vincent, Lott Marie T, Zhang Shiping, Vescovi Angelo Luigi, Wallace Douglas C, Caputo Viviana, Mazza Tommaso

Abstract excerpt

Mitochondrial dysfunction has pleiotropic effects and is frequently caused by mitochondrial DNA mutations. However, factors such as significant variability in clinical manifestations make interpreting the pathogenicity of variants in the mitochondrial genome challenging. Here, we present APOGEE 2, a mitochondrially-centered ensemble method designed to improve the accuracy of pathogenicity predictions for...

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PMID: 37598215
DOI: 10.1038/s41467-023-40797-7
PMCID: PMC10439926

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