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

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10439926/
https://www.ncbi.nlm.nih.gov/pubmed/37598215
http://dx.doi.org/10.1038/s41467-023-40797-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10439926/
https://www.ncbi.nlm.nih.gov/pubmed/37598215
http://dx.doi.org/10.1038/s41467-023-40797-7

Ejemplares similares