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SomaticSignatures: Inferring Mutational Signatures from Single Nucleotide Variants

View ORCID ProfileJulian S. Gehring, View ORCID ProfileBernd Fischer, View ORCID ProfileMichael Lawrence, View ORCID ProfileWolfgang Huber
doi: https://doi.org/10.1101/010686
Julian S. Gehring
1European Molecular Biology Laboratory, Meyerhofstr. 1, 69117 Heidelberg, Germany
2Department of Bioinformatics and Computational Biology, Genentech Inc., 1 DNA Way, South San Francisco, CA 94080, USA
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Bernd Fischer
1European Molecular Biology Laboratory, Meyerhofstr. 1, 69117 Heidelberg, Germany
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Michael Lawrence
2Department of Bioinformatics and Computational Biology, Genentech Inc., 1 DNA Way, South San Francisco, CA 94080, USA
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Wolfgang Huber
1European Molecular Biology Laboratory, Meyerhofstr. 1, 69117 Heidelberg, Germany
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Summary

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 data. 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.

The 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.

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY 4.0 International license.
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Posted March 16, 2015.
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SomaticSignatures: Inferring Mutational Signatures from Single Nucleotide Variants
Julian S. Gehring, Bernd Fischer, Michael Lawrence, Wolfgang Huber
bioRxiv 010686; doi: https://doi.org/10.1101/010686
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SomaticSignatures: Inferring Mutational Signatures from Single Nucleotide Variants
Julian S. Gehring, Bernd Fischer, Michael Lawrence, Wolfgang Huber
bioRxiv 010686; doi: https://doi.org/10.1101/010686

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