MutSig

Mutational signature analysis of WGS data. This repo constains simple scripts to perform mutational signatures analysis using SigProfilerExtractor

Signature workflow (Point Mutations)

1. Prepare reference genome

the script "add_ref_signatures.py" stored in aux_script directory provide examples to donwload the reference genome (def:GRCh38)

2. Prepare WGS data

The makefile stored in aux_scripts directory provide examples for mutect and strelka callers.

3. Run Signature analysis

The python and bash scripts provide examples for both Point mutations callers.

Signature workflow (Copy Number Alterations)

The python script run_cnv_signature.py and the bash script runsig_both.sh stored in the aux_script directory provide examples for discovering CNV signatures from Purple or Facets callers.

Docker container

To avoid install the needed software a Docker container is available at hub.docker:iarcbioinfo/mutsig and include the GRCh38 reference.