Cargando…

Mutational Signatures in Cancer (MuSiCa): a web application to implement mutational signatures analysis in cancer samples

BACKGROUND: Mutational signatures have been proved as a valuable pattern in somatic genomics, mainly regarding cancer, with a potential application as a biomarker in clinical practice. Up to now, several bioinformatic packages to address this topic have been developed in different languages/platform...

Descripción completa

Detalles Bibliográficos
Autores principales: Díaz-Gay, Marcos, Vila-Casadesús, Maria, Franch-Expósito, Sebastià, Hernández-Illán, Eva, Lozano, Juan José, Castellví-Bel, Sergi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001047/
https://www.ncbi.nlm.nih.gov/pubmed/29898651
http://dx.doi.org/10.1186/s12859-018-2234-y
_version_ 1783331899134967808
author Díaz-Gay, Marcos
Vila-Casadesús, Maria
Franch-Expósito, Sebastià
Hernández-Illán, Eva
Lozano, Juan José
Castellví-Bel, Sergi
author_facet Díaz-Gay, Marcos
Vila-Casadesús, Maria
Franch-Expósito, Sebastià
Hernández-Illán, Eva
Lozano, Juan José
Castellví-Bel, Sergi
author_sort Díaz-Gay, Marcos
collection PubMed
description BACKGROUND: Mutational signatures have been proved as a valuable pattern in somatic genomics, mainly regarding cancer, with a potential application as a biomarker in clinical practice. Up to now, several bioinformatic packages to address this topic have been developed in different languages/platforms. MutationalPatterns has arisen as the most efficient tool for the comparison with the signatures currently reported in the Catalogue of Somatic Mutations in Cancer (COSMIC) database. However, the analysis of mutational signatures is nowadays restricted to a small community of bioinformatic experts. RESULTS: In this work we present Mutational Signatures in Cancer (MuSiCa), a new web tool based on MutationalPatterns and built using the Shiny framework in R language. By means of a simple interface suited to non-specialized researchers, it provides a comprehensive analysis of the somatic mutational status of the supplied cancer samples. It permits characterizing the profile and burden of mutations, as well as quantifying COSMIC-reported mutational signatures. It also allows classifying samples according to the above signature contributions. CONCLUSIONS: MuSiCa is a helpful web application to characterize mutational signatures in cancer samples. It is accessible online at http://bioinfo.ciberehd.org/GPtoCRC/en/tools.html and source code is freely available at https://github.com/marcos-diazg/musica. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s12859-018-2234-y) contains supplementary material, which is available to authorized users.
format Online
Article
Text
id pubmed-6001047
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-60010472018-06-26 Mutational Signatures in Cancer (MuSiCa): a web application to implement mutational signatures analysis in cancer samples Díaz-Gay, Marcos Vila-Casadesús, Maria Franch-Expósito, Sebastià Hernández-Illán, Eva Lozano, Juan José Castellví-Bel, Sergi BMC Bioinformatics Software BACKGROUND: Mutational signatures have been proved as a valuable pattern in somatic genomics, mainly regarding cancer, with a potential application as a biomarker in clinical practice. Up to now, several bioinformatic packages to address this topic have been developed in different languages/platforms. MutationalPatterns has arisen as the most efficient tool for the comparison with the signatures currently reported in the Catalogue of Somatic Mutations in Cancer (COSMIC) database. However, the analysis of mutational signatures is nowadays restricted to a small community of bioinformatic experts. RESULTS: In this work we present Mutational Signatures in Cancer (MuSiCa), a new web tool based on MutationalPatterns and built using the Shiny framework in R language. By means of a simple interface suited to non-specialized researchers, it provides a comprehensive analysis of the somatic mutational status of the supplied cancer samples. It permits characterizing the profile and burden of mutations, as well as quantifying COSMIC-reported mutational signatures. It also allows classifying samples according to the above signature contributions. CONCLUSIONS: MuSiCa is a helpful web application to characterize mutational signatures in cancer samples. It is accessible online at http://bioinfo.ciberehd.org/GPtoCRC/en/tools.html and source code is freely available at https://github.com/marcos-diazg/musica. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s12859-018-2234-y) contains supplementary material, which is available to authorized users. BioMed Central 2018-06-14 /pmc/articles/PMC6001047/ /pubmed/29898651 http://dx.doi.org/10.1186/s12859-018-2234-y Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Software
Díaz-Gay, Marcos
Vila-Casadesús, Maria
Franch-Expósito, Sebastià
Hernández-Illán, Eva
Lozano, Juan José
Castellví-Bel, Sergi
Mutational Signatures in Cancer (MuSiCa): a web application to implement mutational signatures analysis in cancer samples
title Mutational Signatures in Cancer (MuSiCa): a web application to implement mutational signatures analysis in cancer samples
title_full Mutational Signatures in Cancer (MuSiCa): a web application to implement mutational signatures analysis in cancer samples
title_fullStr Mutational Signatures in Cancer (MuSiCa): a web application to implement mutational signatures analysis in cancer samples
title_full_unstemmed Mutational Signatures in Cancer (MuSiCa): a web application to implement mutational signatures analysis in cancer samples
title_short Mutational Signatures in Cancer (MuSiCa): a web application to implement mutational signatures analysis in cancer samples
title_sort mutational signatures in cancer (musica): a web application to implement mutational signatures analysis in cancer samples
topic Software
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001047/
https://www.ncbi.nlm.nih.gov/pubmed/29898651
http://dx.doi.org/10.1186/s12859-018-2234-y
work_keys_str_mv AT diazgaymarcos mutationalsignaturesincancermusicaawebapplicationtoimplementmutationalsignaturesanalysisincancersamples
AT vilacasadesusmaria mutationalsignaturesincancermusicaawebapplicationtoimplementmutationalsignaturesanalysisincancersamples
AT franchexpositosebastia mutationalsignaturesincancermusicaawebapplicationtoimplementmutationalsignaturesanalysisincancersamples
AT hernandezillaneva mutationalsignaturesincancermusicaawebapplicationtoimplementmutationalsignaturesanalysisincancersamples
AT lozanojuanjose mutationalsignaturesincancermusicaawebapplicationtoimplementmutationalsignaturesanalysisincancersamples
AT castellvibelsergi mutationalsignaturesincancermusicaawebapplicationtoimplementmutationalsignaturesanalysisincancersamples