bioRxivBioinformatics
SomaticSignatures: Inferring Mutational Signatures from Single Nucleotide Variants
Julian S. Gehring, Bernd Fischer, Michael Lawrence, Wolfgang Huber
Abstract
Mutational signatures are patterns in the occurrence of somatic single nucleotide variants (SNVs) that can reflect underlying mutational processes. The SomaticSignatures package provides flexible, interoperable, and easy-to-use tools that identify such signatures in cancer sequencing studies. It facilitates large-scale, cross-dataset estimation of mutational signatures, implements existing methods for pattern decomposition, supports extension through user-defined methods and integrates with Bioconductor workflows.\n\nThe R package SomaticSignatures is available as part of the Bioconductor project (R Core Team, 2014; Gentleman et al., 2004). Its documentation provides additional details on the methodology and demonstrates applications to biological datasets.
- organism: human
- assay: whole-exome sequencing
- research focus: variant calling
- approach: statistical model
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