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PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update.
López-Ferrando, Víctor; Gazzo, Andrea; de la Cruz, Xavier; Orozco, Modesto; Gelpí, Josep Ll.
Afiliación
  • López-Ferrando V; Barcelona Supercomputing Center (BSC), Barcelona, Spain.
  • Gazzo A; Joint Program BSC-CRG-IRB Research Program for Computational Biology, Barcelona, Spain.
  • de la Cruz X; Joint Program BSC-CRG-IRB Research Program for Computational Biology, Barcelona, Spain.
  • Orozco M; Institute for Research in Biomedicine (IRB) Barcelona, The Barcelona Institute of Science and Technology, Barcelona. Spain.
  • Gelpí JL; Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.
Nucleic Acids Res ; 45(W1): W222-W228, 2017 07 03.
Article en En | MEDLINE | ID: mdl-28453649
We present here a full update of the PMut predictor, active since 2005 and with a large acceptance in the field of predicting Mendelian pathological mutations. PMut internal engine has been renewed, and converted into a fully featured standalone training and prediction engine that not only powers PMut web portal, but that can generate custom predictors with alternative training sets or validation schemas. PMut Web portal allows the user to perform pathology predictions, to access a complete repository of pre-calculated predictions, and to generate and validate new predictors. The default predictor performs with good quality scores (MCC values of 0.61 on 10-fold cross validation, and 0.42 on a blind test with SwissVar 2016 mutations). The PMut portal is freely accessible at http://mmb.irbbarcelona.org/PMut. A complete help and tutorial is available at http://mmb.irbbarcelona.org/PMut/help.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Programas Informáticos / Proteínas / Enfermedad / Mutación Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Nucleic Acids Res Año: 2017 Tipo del documento: Article País de afiliación: España Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Programas Informáticos / Proteínas / Enfermedad / Mutación Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Nucleic Acids Res Año: 2017 Tipo del documento: Article País de afiliación: España Pais de publicación: Reino Unido