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Updated: Nov 26, 2025

Characterizing Mutational Load and Clonal Composition of Human Blood
Published on: July 11, 2019
iMutSig: a web application to identify the most similar mutational signature using shiny
Zhi Yang1, Priyatama Pandey1, Paul Marjoram1
1Department of Preventive Medicine, Keck School of Medicine of the University of Southern California, 2001 N.Soto Street, Los Angeles, CA, 91003, USA.
Abstract:
There are two frameworks for characterizing mutational signatures which are commonly used to describe the nucleotide patterns that arise from mutational processes. Estimated mutational signatures from fitting these two methods in human cancer can be found online, in the Catalogue Of Somatic Mutations In Cancer (COSMIC) website or a GitHub repository. The two frameworks make differing assumptions regarding independence of base pairs and for that reason may produce different results. Consequently, there is a need to compare and contrast the results of the two methods, but no such tool currently exists. In this paper, we provide a simple and intuitive interface that allows comparisons of pairs of mutational signatures to be easily performed. Cosine similarity measures the extent of signature similarity. To compare mutational signatures of different formats, one signature type (COSMIC or pmsignature) is converted to the format of the other before the signatures are compared. iMutSig provides a simple and user-friendly web application allowing researchers to download published mutational signatures of either type and to compare signatures from COSMIC to those from pmsignature, and vice versa. Furthermore, iMutSig allows users to input a self-defined mutational signature and examine its similarity to published signatures from both data sources. iMutSig is accessible online and source code is available for download from GitHub.
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