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APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants.
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.
Affiliation
  • Bianco SD; Bioinformatics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo (FG), Italy.
  • Parca L; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
  • Petrizzelli F; Bioinformatics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo (FG), Italy.
  • Biagini T; Italian Space Agency, Rome, Italy.
  • Giovannetti A; Bioinformatics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo (FG), Italy.
  • Liorni N; Bioinformatics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo (FG), Italy.
  • Napoli A; Clinical Genomics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo (FG), Italy.
  • Carella M; Bioinformatics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo (FG), Italy.
  • Procaccio V; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
  • Lott MT; Bioinformatics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo (FG), Italy.
  • Zhang S; Medical Genetics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo, (FG), Italy.
  • Vescovi AL; University of Angers, Genetics Department CHU Angers, Mitolab UMR CNRS 6015-INSERM U1083, F-49000, Angers, France.
  • Wallace DC; Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Caputo V; Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Mazza T; Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Nat Commun ; 14(1): 5058, 2023 08 19.
Article in En | MEDLINE | ID: mdl-37598215
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Amino Acids Type of study: Guideline / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2023 Document type: Article Affiliation country: Italia
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Amino Acids Type of study: Guideline / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2023 Document type: Article Affiliation country: Italia