Sigflow: an automated and comprehensive pipeline for cancer genome mutational signature analysis

Abstract

SummaryMutational signatures are recurring DNA alteration patterns caused by distinct mutational events during the evolution of cancer. In recent years, several bioinformatics tools are available for mutational signature analysis. However, most of them focus on specific type of mutation, or have limited scope of application. A pipeline tool for comprehensive mutational signature analysis is still lacking. Here we present Sigflow pipeline, which provides an one-stop solution for de novo signature extraction, reference signature fitting, signature stability analysis, sample clustering based on signature exposure in different types of genome DNA alterations including single base substitution (SBS), doublet base substitution (DBS), small insertion and deletion (INDEL), and copy number alteration. A Docker image is constructed to solve the complex and time-consuming installation issues, and this enables reproducible research by version control of all dependent tools along with their environments. The Sigflow pipeline can be applied to both human and mouse genomes. Availability and implementationSigflow is an open source software under academic free license (AFL) v3.0 and it is freely available at https://github.com/ShixiangWang/sigminer.workflow or https://hub.docker.com/r/shixiangwang/sigflow. Contactliuxs@shanghaitech.edu.cn