SomaticSignatures: inferring mutational signatures from single-nucleotide variants

SomaticSignatures:从单核苷酸变异推断突变特征

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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. 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.

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