Initial release of the CNVand pipeline.
- CNV detection using CNVkit with target and antitarget coverage calculations, reference panel generation, systematic bias correction, CNV segmentation, and CNV calling.
- CNV visualization with scatter plot generation in PDF and PNG formats.
- Annotation using AnnotSV with reference gene annotations.
- Docker support for pipeline execution in an isolated environment.
- Snakedeploy support for quick installation.
- Automated HTML report generation with Snakemake.
Minor changes in documentation and GitHub actions
- GitHub workflow description under
.github/workflows/dockerize.yml
to exclude annotation bundling. - Mamba
environment.yml
file to set up an environment with the name 'cnvand'. - Main
README.md
to adapt to the former changes and to link to other documentation inside the repository.
Minor changes and fixes in CNVkit parameter handling
- Fix missing passthrough of extra parameters in
workflow/rules/cnv.smk
and add a model option for the rule cnvkit_segment - Add the parameter from above as a seperate entry in
config/config.yaml
- Default model for the segment rule is now
cbs