SomaticSignatures: inferring mutational signatures from single-nucleotide variants.
SomaticSignatures: inferring mutational signatures from single-nucleotide variants.
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DOI：
10.1093/bioinformatics/btv408
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发表时间：
2015-11-15
期刊：
影响因子：
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通讯作者：
Huber W
中科院分区：
文献类型：
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作者：
Gehring JS;Fischer B;Lawrence M;Huber W
摘要：突变特征是体细胞单核苷酸变异发生的模式，可以反映潜在的突变过程。SomaticSignatures软件包提供了灵活、可互操作且易于使用的工具，可识别癌症测序数据中的此类特征。它促进了突变特征的大规模跨数据集估计，实现了现有的模式分解方法，支持通过用户定义的方法进行扩展，并与现有的Bioconductor工作流程集成。可用性和实施：R包SomaticSignatures作为Bioconductor项目的一部分提供。它的文档提供了有关方法的更多细节，并演示了生物数据集的应用。联系方式：julian. embl.de，whuber@embl.de补充信息：补充数据可在生物信息学在线获得。
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.