The Mutational Signature Comprehensive Analysis Toolkit (musicatk) for the discovery, prediction, and exploration of mutational signatures

Published: Nov. 19, 2020, 3:02 a.m.

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2020.11.17.385864v1?rss=1 Authors: Chevalier, A., Yang, S., Yajima, M., Campbell, J. D. Abstract: Mutational signatures are patterns of somatic alterations in the genome that cause carcinogenic exposures or aberrant cellular processes. We created the musicatk package to provide a comprehensive workflow for preprocessing, analysis, and visualization of mutational signatures. The musicatk package enables users to select different schemas for counting mutation types and easily combine count tables from different schemas. Several methods can be used to discover new signatures or infer the exposures for given a pre-existing set of signatures. Several visualizations are provided to facilitate exploratory analysis of signatures and exposures. These include comparison of discovered signatures to those in the COSMIC database, using UMAP to embed tumors in two dimensions, and plotting of exposure distributions across user-defined annotations. Overall, musicatk can be used to gain novel insights into the patterns of mutational signature observed in cancer. Copy rights belong to original authors. Visit the link for more info