Mutational signatures are patterns of somatic alterations in the genome caused by carcinogenic exposures or aberrant cellular processes. To provide a comprehensive workflow for preprocessing, analysis, and visualization of mutational signatures, we created the Mutational Signature Comprehensive Analysis Toolkit (musicatk) package. musicatk enables users to select different schemas for counting mutation types and to easily combine count tables from different schemas. Multiple distinct methods are available to deconvolute signatures and exposures or to predict exposures in individual samples given a pre-existing set of signatures. Additional exploratory features include the ability to compare signatures to the Catalogue Of Somatic Mutations In Cancer (COSMIC) database, embed tumors in two dimensions with uniform manifold approximation and projection, cluster tumors into subgroups based on exposure frequencies, identify differentially active exposures between tumor subgroups, and plot exposure distributions across user-defined annotations such as tumor type. Overall, musicatk will enable users to gain novel insights into the patterns of mutational signatures observed in cancer cohorts. Significance: The musicatk package empowers researchers to characterize mutational signatures and tumor heterogeneity with a comprehensive set of preprocessing utilities, discovery and prediction tools, and multiple functions for downstream analysis and visualization.

中文翻译：

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用于发现、预测和探索突变特征的突变特征综合分析工具包 (musicatk)

突变特征是由致癌暴露或异常细胞过程引起的基因组体细胞改变的模式。为了为突变特征的预处理、分析和可视化提供全面的工作流程，我们创建了突变特征综合分析工具包 (musicatk) 包。musicatk 使用户能够选择不同的模式来计算突变类型，并轻松组合来自不同模式的计数表。有多种不同的方法可用于对签名和曝光进行反卷积，或在给定一组预先存在的签名的情况下预测单个样本中的曝光。其他探索性功能包括将特征与癌症体细胞突变目录 (COSMIC) 数据库进行比较的能力，以统一的流形近似和投影在二维中嵌入肿瘤，根据暴露频率将肿瘤聚类为亚组，识别肿瘤亚组之间的差异活跃暴露，并绘制跨用户定义的注释（如肿瘤类型）的暴露分布。总体而言，musicatk 将使用户能够对在癌症队列中观察到的突变特征模式获得新的见解。意义：muscatk 软件包使研究人员能够通过一套全面的预处理实用程序、发现和预测工具以及用于下游分析和可视化的多种功能来表征突变特征和肿瘤异质性。musicatk 将使用户能够对在癌症队列中观察到的突变特征模式获得新的见解。意义：muscatk 软件包使研究人员能够通过一套全面的预处理实用程序、发现和预测工具以及用于下游分析和可视化的多种功能来表征突变特征和肿瘤异质性。musicatk 将使用户能够对在癌症队列中观察到的突变特征模式获得新的见解。意义：muscatk 软件包使研究人员能够通过一套全面的预处理实用程序、发现和预测工具以及用于下游分析和可视化的多种功能来表征突变特征和肿瘤异质性。