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Relating mutational signature exposures to clinical data in cancers via signeR 2.0

BACKGROUND: Cancer is a collection of diseases caused by the deregulation of cell processes, which is triggered by somatic mutations. The search for patterns in somatic mutations, known as mutational signatures, is a growing field of study that has already become a useful tool in oncology. Several a...

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Autores principales: Drummond, Rodrigo D., Defelicibus, Alexandre, Meyenberg, Mathilde, Valieris, Renan, Dias-Neto, Emmanuel, Rosales, Rafael A., da Silva, Israel Tojal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664385/
https://www.ncbi.nlm.nih.gov/pubmed/37990302
http://dx.doi.org/10.1186/s12859-023-05550-3
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author Drummond, Rodrigo D.
Defelicibus, Alexandre
Meyenberg, Mathilde
Valieris, Renan
Dias-Neto, Emmanuel
Rosales, Rafael A.
da Silva, Israel Tojal
author_facet Drummond, Rodrigo D.
Defelicibus, Alexandre
Meyenberg, Mathilde
Valieris, Renan
Dias-Neto, Emmanuel
Rosales, Rafael A.
da Silva, Israel Tojal
author_sort Drummond, Rodrigo D.
collection PubMed
description BACKGROUND: Cancer is a collection of diseases caused by the deregulation of cell processes, which is triggered by somatic mutations. The search for patterns in somatic mutations, known as mutational signatures, is a growing field of study that has already become a useful tool in oncology. Several algorithms have been proposed to perform one or both the following two tasks: (1) de novo estimation of signatures and their exposures, (2) estimation of the exposures of each one of a set of pre-defined signatures. RESULTS: Our group developed signeR, a Bayesian approach to both of these tasks. Here we present a new version of the software, signeR 2.0, which extends the possibilities of previous analyses to explore the relation of signature exposures to other data of clinical relevance. signeR 2.0 includes a user-friendly interface developed using the R-Shiny framework and improvements in performance. This version allows the analysis of submitted data or public TCGA data, which is embedded in the package for easy access. CONCLUSION: signeR 2.0 is a valuable tool to generate and explore exposure data, both from de novo or fitting analyses and is an open-source R package available through the Bioconductor project at (10.18129/B9.bioc.signeR). SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12859-023-05550-3.
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spelling pubmed-106643852023-11-22 Relating mutational signature exposures to clinical data in cancers via signeR 2.0 Drummond, Rodrigo D. Defelicibus, Alexandre Meyenberg, Mathilde Valieris, Renan Dias-Neto, Emmanuel Rosales, Rafael A. da Silva, Israel Tojal BMC Bioinformatics Software BACKGROUND: Cancer is a collection of diseases caused by the deregulation of cell processes, which is triggered by somatic mutations. The search for patterns in somatic mutations, known as mutational signatures, is a growing field of study that has already become a useful tool in oncology. Several algorithms have been proposed to perform one or both the following two tasks: (1) de novo estimation of signatures and their exposures, (2) estimation of the exposures of each one of a set of pre-defined signatures. RESULTS: Our group developed signeR, a Bayesian approach to both of these tasks. Here we present a new version of the software, signeR 2.0, which extends the possibilities of previous analyses to explore the relation of signature exposures to other data of clinical relevance. signeR 2.0 includes a user-friendly interface developed using the R-Shiny framework and improvements in performance. This version allows the analysis of submitted data or public TCGA data, which is embedded in the package for easy access. CONCLUSION: signeR 2.0 is a valuable tool to generate and explore exposure data, both from de novo or fitting analyses and is an open-source R package available through the Bioconductor project at (10.18129/B9.bioc.signeR). SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12859-023-05550-3. BioMed Central 2023-11-22 /pmc/articles/PMC10664385/ /pubmed/37990302 http://dx.doi.org/10.1186/s12859-023-05550-3 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Software
Drummond, Rodrigo D.
Defelicibus, Alexandre
Meyenberg, Mathilde
Valieris, Renan
Dias-Neto, Emmanuel
Rosales, Rafael A.
da Silva, Israel Tojal
Relating mutational signature exposures to clinical data in cancers via signeR 2.0
title Relating mutational signature exposures to clinical data in cancers via signeR 2.0
title_full Relating mutational signature exposures to clinical data in cancers via signeR 2.0
title_fullStr Relating mutational signature exposures to clinical data in cancers via signeR 2.0
title_full_unstemmed Relating mutational signature exposures to clinical data in cancers via signeR 2.0
title_short Relating mutational signature exposures to clinical data in cancers via signeR 2.0
title_sort relating mutational signature exposures to clinical data in cancers via signer 2.0
topic Software
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664385/
https://www.ncbi.nlm.nih.gov/pubmed/37990302
http://dx.doi.org/10.1186/s12859-023-05550-3
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