PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update
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Cita com:
hdl:2117/104778
Tipus de documentArticle
Data publicació2017-04-27
EditorOxford University Press
Condicions d'accésAccés obert
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Reconeixement-NoComercial-SenseObraDerivada 4.0 Espanya
ProjecteELIXIR-EXCELERATE - ELIXIR-EXCELERATE: Fast-track ELIXIR implementation and drive early user exploitation across the life-sciences. (EC-H2020-676559)
BioExcel - Centre of Excellence for Biomolecular Research (EC-H2020-675728)
MuG - Multi-Scale Complex Genomics (EC-H2020-676556)
BARCELONA SUPERCOMPUTING CENTER - CENTRO. NACIONAL DE SUPERCOMPUTACION (MINECO-SEV-2015-0493)
EVALUACION E INTEGRACION DE ESTRATEGIAS DE COMPRESION Y ANALISIS GENOMICO (MINECO-TEC2015-67774-C2-2-R)
BioExcel - Centre of Excellence for Biomolecular Research (EC-H2020-675728)
MuG - Multi-Scale Complex Genomics (EC-H2020-676556)
BARCELONA SUPERCOMPUTING CENTER - CENTRO. NACIONAL DE SUPERCOMPUTACION (MINECO-SEV-2015-0493)
EVALUACION E INTEGRACION DE ESTRATEGIAS DE COMPRESION Y ANALISIS GENOMICO (MINECO-TEC2015-67774-C2-2-R)
Abstract
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.
CitacióLópez-Ferrando, V. [et al.]. PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update. "Nucleic Acids Research", 27 Abril 2017.
ISSN0305-1048
Versió de l'editorhttps://academic.oup.com/nar/article-lookup/doi/10.1093/nar/gkx313
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