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MutaGene

MutaGene is a Python package for analyzing mutations and mutational processes in cancer. It provides command-line tools that complement the MutaGene website.

Installation

Requires Python 3.8+.

pip install mutagene

For the local web interface:

pip install mutagene[web]

Subcommands

Command Description
mutagene fetch Download genomes, cancer datasets, and cohorts from remote sources
mutagene profile Create mutational profiles from samples (MAF/VCF input)
mutagene rank Rank mutations by driver status using expected mutability
mutagene motif Test samples for presence of mutational motifs
mutagene signature Decompose profiles into known mutational signatures
mutagene serve Start local web server for interactive analysis

Use mutagene <command> --help for detailed usage of each subcommand.

Quick Start

# Download a genome assembly
mutagene fetch genome hg19

# Create a mutational profile
mutagene profile -i sample.maf -g hg19 -o profile.tsv

# Rank driver mutations
mutagene rank -i sample.maf -g hg19 --cohort LUAD

# Search for mutational motifs
mutagene motif -i sample.maf -g hg19 --motif 'C[C>T]G'

# Decompose into COSMIC signatures
mutagene signature -i sample.maf -g hg19 -s COSMICv2

# Start the web interface
mutagene serve

Citation

If you use MutaGene, please cite:

Goncearenco A, Rager SL, Li M, Sang Q, Rogozin IB, Panchenko AR. Exploring background mutational processes to decipher cancer genetic heterogeneity. Nucleic Acids Res. 2017; 45(W1):W514-W522. https://doi.org/10.1093/nar/gkx367

For the driver ranking method (mutagene rank):

Brown AL, Li M, Goncearenco A, Panchenko AR. Finding driver mutations in cancer: Elucidating the role of background mutational processes. PLOS Computational Biology 2019; 15(4): e1006981. https://doi.org/10.1371/journal.pcbi.1006981