SomaticSignatures: inferring mutational signatures from single-nucleotide variants.
basic_science · Level V
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- Record sourced from PubMed, PMID 26163694.
- Also identified by DOI 10.1093/bioinformatics/btv408 and PMC identifier 4817139.
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Abstract
Mutational signatures are patterns in the occurrence of somatic single-nucleotide variants that can reflect underlying mutational processes. The SomaticSignatures package provides flexible, interoperable and easy-to-use tools that identify such signatures in cancer sequencing data. It facilitates large-scale, cross-dataset estimation of mutational signatures, implements existing methods for pattern decomposition, supports extension through user-defined approaches and integrates with existing Bioconductor workflows. The R package SomaticSignatures is available as part of the Bioconductor project. Its documentation provides additional details on the methods and demonstrates applications to biological datasets. julian.gehring@embl.de, whuber@embl.de Supplementary data are available at Bioinformatics online.
Medical subject headings
- Mutation
- Polymorphism, Single Nucleotide
- Software