SomaticSignatures: inferring mutational signatures from single-nucleotide variants

JS Gehring, B Fischer, M Lawrence, W Huber - Bioinformatics, 2015 - academic.oup.com
Bioinformatics, 2015academic.oup.com
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 …
Abstract
Summary: 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.
Oxford University Press