A Snakemake workflow for microsatellite instability (MSI) detection with msisensor-pro, following best practices for standardized workflows.
The usage of this workflow is described in the Snakemake Workflow Catalog.
Detailed information about input data and workflow configuration can also be found in the config/README.md
.
If you use this workflow in a paper, don't forget to give credits to the authors of this workflow and the tools it uses by citing:
- The URL of this repository or its DOI.
- The papers listed under References.
Please also note that the main tool used here,
msisensor-pro
, is onlyfree for non-commercial use by academic, government, and non-profit/not-for-profit institutionsfree to use by
. For details and contact information for commercial licensing, see themsisensor-pro
license.
To run the workflow from command line, change the working directory.
cd path/to/snakemake-workflow-name
Adjust options in the default config file config/config.yaml
.
Before running the complete workflow, you can perform a dry run using:
snakemake --dry-run
To run the workflow with test files using conda:
snakemake --cores 2 --sdm conda --directory .test
- David Lähnemann
- German Cancer Consortium (DKTK), partner site Essen-Düsseldorf, A partnership between DKFZ and University Hospital Essen
- https://orcid.org/0000-0002-9138-4112
Peng Jia, Xiaofei Yang, Li Guo, Bowen Liu, Jiadong Lin, Hao Liang, Jianyong Sun, Chengsheng Zhang, Kai Ye, MSIsensor-Pro: Fast, Accurate, and Matched-Normal-Sample-Free Detection of Microsatellite Instability, Genomics, Proteomics & Bioinformatics, Volume 18, Issue 1, February 2020, Pages 65–71, https://doi.org/10.1016/j.gpb.2020.02.001
Köster, J., Mölder, F., Jablonski, K. P., Letcher, B., Hall, M. B., Tomkins-Tinch, C. H., Sochat, V., Forster, J., Lee, S., Twardziok, S. O., Kanitz, A., Wilm, A., Holtgrewe, M., Rahmann, S., & Nahnsen, S. Sustainable data analysis with Snakemake. F1000Research, 10:33, 10, 33, 2021. https://doi.org/10.12688/f1000research.29032.2.
- Do not forget to also adjust the configuration-specific
config/README.md
file.