PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update

TitlePMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update
Publication TypeJournal Article
Year of Publication2017
AuthorsLópez-Ferrando, Víctor, Gazzo Andrea, de la Cruz Xavier, Orozco Modesto, and Gelpí Josep-Lluis
JournalNucleic Acids Research
Volume45
Start PageW222
IssueW1
PaginationW222-W228
Date Published04/2017
KeywordsPathological mutations
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.


URLhttps://academic.oup.com/nar/article-lookup/doi/10.1093/nar/gkx313
DOI10.1093/nar/gkx313
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