MutationalPatterns

Overview

MutationalPatterns is an R/Bioconductor package for comprehensive analysis of somatic mutational patterns and signatures. It supports extraction and refitting of mutational signatures (SBS, DBS, indel), strand-bias analysis, lesion-segregation scoring, and transcriptional strand asymmetry analysis. Version 3.x introduced improved NMF extraction and bootstrapped confidence estimation.

Used by

• Used alongside SigProfiler to characterize mutational signatures in endometrial polyps (v3.4.1); identified SBS8 and SBS89 in addition to the SBS1/SBS5/SBS40 signatures called by SigProfiler PMID:28445112

Notes

• Provides complementary signature assignments to SigProfiler; differences between tools reflect NMF initialization and regularization choices.
• Supports both de novo extraction and fitting of COSMIC reference signatures.
• Implemented in R; compatible with Bioconductor workflows.

Sources

• PMID:28445112

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