MetaMutationalSigs: comparison of mutational signature refitting results made easy

Abstract Motivation The analysis of mutational signatures is becoming increasingly common in cancer genetics, with emerging implications in cancer evolution, classification, treatment decision and prognosis. Recently, several packages have been developed for mutational signature analysis, with each...

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Bibliographic Details
Published in:Bioinformatics 2022-04, Vol.38 (8), p.2344-2347
Main Authors: Pandey, Palash, Arora, Sanjeevani, Rosen, Gail L
Format: Article
Language:English
Subjects:
Applications Note
Humans
Mutation
Neoplasms - genetics
Software
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Summary:Abstract Motivation The analysis of mutational signatures is becoming increasingly common in cancer genetics, with emerging implications in cancer evolution, classification, treatment decision and prognosis. Recently, several packages have been developed for mutational signature analysis, with each using different methodology and yielding significantly different results. Because of the non-trivial differences in tools’ refitting results, researchers may desire to survey and compare the available tools, in order to objectively evaluate the results for their specific research question, such as which mutational signatures are prevalent in different cancer types. Results Due to the need for effective comparison of refitting mutational signatures, we introduce a user-friendly software that can aggregate and visually present results from different refitting packages. Availability and implementation MetaMutationalSigs is implemented using R and python and is available for installation using Docker and available at: https://github.com/EESI/MetaMutationalSigs.
ISSN:1367-4803
1460-2059
1367-4811
DOI:10.1093/bioinformatics/btac091