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

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dc.contributor.author López Ferrando, Víctor
dc.contributor.author Gazzo, Andrea M.
dc.contributor.author Cruz, Xavier de la
dc.contributor.author Orozco, Modesto
dc.contributor.author Gelpí, Josep Lluís
dc.date.accessioned 2018-07-02T07:45:45Z
dc.date.available 2018-07-02T07:45:45Z
dc.date.issued 2017
dc.identifier.citation López-Ferrando V, Gazzo A, de la Cruz X, Orozco M, Gelpí JL. PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update. Nucleic Acids Res. 2017 Jul 3;45(W1):W222-W228. DOI: 10.1093/nar/gkx313
dc.identifier.issn 0305-1048
dc.identifier.uri http://hdl.handle.net/10230/35009
dc.description.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.
dc.description.sponsorship 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 Bioinformática [INB; PT13/0001/0019, PT13/0001/0028]; European Union, H2020 programme [Elixir-Excelerate: 676559; BioExcel: 674728 and MuG: 676566]; La Caixa Foundation fellowship [to V.L.F.]. Funding for open access charge: European Union and Spanish Ministry of Science.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Oxford University Press
dc.relation.ispartof Nucleic Acids Res. 2017 Jul 3;45(W1):W222-W228
dc.rights © The Author(s) 2017. Published by Oxford University Press on behalf of Nucleic Acids Research. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
dc.rights.uri http://creativecommons.org/licenses/by-nc/4.0/
dc.title PMut: A web-based tool for the annotation of pathological variants on proteins, 2017 update
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1093/nar/gkx313
dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/676559
dc.relation.projectID info:eu-repo/grantAgreement/ES/1PE/BIO2015-64802-R
dc.relation.projectID info:eu-repo/grantAgreement/ES/1PE/SAF2016-80255-R
dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/674728
dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/676566
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion


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