Machine learning classifier for identification of damaging missense mutations exclusive to human mitochondrial DNA-encoded polypeptides

BACKGROUND: Several methods have been developed to predict the pathogenicity of missense mutations but none has been specifically designed for classification of variants in mtDNA-encoded polypeptides. Moreover, there is not available curated dataset of neutral and damaging mtDNA missense variants to...

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Detalles Bibliográficos
Autores principales: Martín-Navarro, Antonio, Gaudioso-Simón, Andrés, Álvarez-Jarreta, Jorge, Montoya, Julio, Mayordomo, Elvira, Ruiz-Pesini, Eduardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5341421/
https://www.ncbi.nlm.nih.gov/pubmed/28270093
http://dx.doi.org/10.1186/s12859-017-1562-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5341421/
https://www.ncbi.nlm.nih.gov/pubmed/28270093
http://dx.doi.org/10.1186/s12859-017-1562-7

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