SomaticSignatures: inferring mutational signatures from single-nucleotide variants

Bioinformatics. 2015 Nov 15;31(22):3673-5. doi: 10.1093/bioinformatics/btv408. Epub 2015 Jul 10.

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.

Availability and implementation: 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.

Contact: julian.gehring@embl.de, whuber@embl.de

Supplementary information: Supplementary data are available at Bioinformatics online.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Genome, Human
  • Humans
  • Mutation / genetics*
  • Neoplasms / genetics
  • Polymorphism, Single Nucleotide / genetics*
  • Software*