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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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Detalles Bibliográficos
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
Descripción
Sumario: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.