LiuzLab / AI_MARRVEL

AI-MARRVEL (AIM) is an AI system for rare genetic disorder diagnosis
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Add `--help` option to nextflow_conversion branch #47

Closed hyunhwan-bcm closed 1 month ago

hyunhwan-bcm commented 1 month ago

Description

We need to implement a --help option for the Nextflow script in the nextflow_conversion branch. This will provide users with information about the pipeline's usage, available parameters, and their descriptions.

Proposed Implementation

  1. Add a new process or function to handle the --help option.
  2. When --help is invoked, display information about:
    • Basic usage
    • Input parameters (e.g., params.input_vcf, params.input_hpo, params.run_id)
    • Output directories and files
    • Reference files and their purposes
    • Brief descriptions of main processes (e.g., VCF processing, annotation, feature engineering, prediction)

Example Help Output

Usage: nextflow run main.nf [options]

Options:
  --input_vcf           Path to input VCF file
  --input_hpo           Path to input HPO file
  --run_id              Unique identifier for this run
  --ref_ver             Reference genome version (hg38 or hg19)
  --outdir              Output directory
  --no_filter_exonic    Skip exonic filtering (default: false)

Reference Files:
  --ref_loc             Path to reference location file
  --ref_to_sym          Path to reference to symbol file
  --ref_sorted_sym      Path to reference sorted symbol file
  --ref_exonic_filter_bed  Path to exonic filter BED file

VEP Annotation:
  --vep_dir_cache       Path to VEP cache directory
  --vep_dir_plugins     Path to VEP plugins directory
  --vep_custom_gnomad   Path to custom gnomAD file for VEP
  --vep_custom_clinvar  Path to custom ClinVar file for VEP
  --vep_custom_hgmd     Path to custom HGMD file for VEP

(Add more parameters as needed)

For detailed information about each process, please refer to the documentation.

Tasks

Additional Notes

ZaahidShaik commented 1 month ago

Made PR for this issue.