Journal
NUCLEIC ACIDS RESEARCH
Volume 45, Issue W1, Pages W222-W228Publisher
OXFORD UNIV PRESS
DOI: 10.1093/nar/gkx313
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Funding
- Spanish Ministry of Science [BIO2015-64802-R-32868, SEV-2015-0493, TIN2012-34557, TEC2015-67774-C2-2-R, SAF2016-80255-R]
- Catalan Government [2014-SGR-134, 2014-SGR-1051]
- Instituto de Salud Carlos III-Instituto Nacional de Bioinformatica [INB] [PT13/0001/0019, PT13/0001/0028]
- European Union [Elixir-Excelerate: 676559, BioExcel: 674728, MuG: 676566]
- La Caixa Foundation fellowship
- European Union
- Spanish Ministry of Science
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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.
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