https://github.com/baerlachlan/smk-rnaseq-gatk-variants

Snakemake implementation of the GATK best-practices workflow for RNA-seq short variant discovery

https://github.com/baerlachlan/smk-rnaseq-gatk-variants

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Repository

Snakemake implementation of the GATK best-practices workflow for RNA-seq short variant discovery

Basic Info
  • Host: GitHub
  • Owner: baerlachlan
  • License: mit
  • Language: Python
  • Default Branch: main
  • Homepage:
  • Size: 3.82 MB
Statistics
  • Stars: 1
  • Watchers: 1
  • Forks: 0
  • Open Issues: 0
  • Releases: 4
Created about 2 years ago · Last pushed over 1 year ago
Metadata Files
Readme License

README.md

Snakemake workflow for variant calling from RNA-seq data

This Snakemake workflow implements the GATK best-practices workflow for RNA-seq short variant discovery.

Standardised usage

Standardised usage of this workflow is described in the Snakemake Workflow Catalog.

However, Snakemake standardised usage requires internet access which is commonly unavailable in an HPC environment. If the intention is to run the workflow in an offline environment, please see Recommended usage.

Recommended usage

For compatibility across environments, the source code of this workflow is available via Releases.

  1. Download and extract the workflow's latest release
  2. Remove unrequired files bash rm .gitignore .snakemake-workflow-catalog.yml
  3. Follow the instructions in config/README.md to modify config/samples.tsv and config/units.tsv
  4. Follow the comments in config/config.yaml to configure the workflow parameters
  5. Use the example profile in workflow/profiles/example/config.v8+.yaml as a guide to fine-tune workflow-specific resource configuration
    • NOTE: the example profile has been designed for compatibility with my SLURM profile
    • To automatically enable a workflow-specific profile, move it to workflow/profiles/default, for example: bash cp -r workflow/profiles/example workflow/profiles/default
  6. Execute the workflow bash snakemake

Testing

Example data and configurations are available for testing of this workflow.

Backup the example configuration, and copy the test configuration in its place:

```bash

Backup example config

mv config/ config_example/

Test paired-end

cp -r .test/config_pe/ config/

Or test single-end

cp -r .test/config_se/ config/ ```

The example data is small, so the test workflow profile can be used upon execution. To keep intermediate files, specify the --notemp flag.

bash snakemake --notemp --workflow-profile workflow/profiles/test

Owner

  • Name: Lachlan Baer
  • Login: baerlachlan
  • Kind: user
  • Location: Adelaide, South Australia
  • Company: University of Adelaide

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