Open-source mutational signature analysis

One suite for reading the somatic mutational history of cancer genomes.

SigProfilerSuite brings together computational tools for generating mutational catalogs, extracting de novo signatures, decomposing de novo signatures into known signatures, assigning known signatures, visualizing patterns, simulating null models, detecting clustered mutations, and studying genomic topography.

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Featured tools

Representative tools across the suite.

These examples highlight complementary steps in mutational signature analysis. The complete list of tools is available on the Tools page.

Matrix generation

SigProfilerMatrixGenerator

Generates mutational matrices from somatic mutation data across supported mutation classes and mutational contexts.

De novo signature extraction

SigProfilerExtractor

Extracts de novo mutational signatures from mutational matrices and estimates their activities in individual samples.

Signature decomposition and assignment

SigProfilerAssignment

Decomposes de novo signatures into reference signatures and assigns known or custom signatures to samples and individual mutations.

Genomic topography

SigProfilerTopography

Evaluates the spatial distribution of mutational processes relative to chromatin, replication, transcription, and strand-associated genomic features.

Team

A shared home for a multi-lab suite.

SigProfilerSuite is coordinated across the labs contributing to the maintenance and development of the tools.

UC San Diego

Alexandrov lab

Founding lab of the SigProfilerSuite, responsible for scientific coordination.

CNIO

Díaz-Gay lab

Maintains SigProfilerAssignment, SigProfilerClusters, and SigProfilerSimulator.

UAlbany

Islam lab

Maintains SigProfilerMatrixGenerator, SigProfilerExtractor, and SigProfilerPlotting.

METU

Otlu lab

Maintains SigProfilerTopography.

Questions or support requests?

For general questions, please contact the SigProfilerSuite team. Tool-specific requests can also be opened as GitHub issues in the corresponding repository.