cyberneticlibrary

Classify structural genome variants

genomics-sv-detectionskillsetup L2143
TianGzlab/OmicsClaw
What it does

Load SV VCF and produce per-type counts with size classification

Best for

When you have SV VCF output from Manta/Delly/Sniffles and need aggregated counts and size bins.

Inputs
  • · .vcf file (with SVTYPE in INFO)
  • · optional --n-svs for demo
Outputs
  • · tables/structural_variants.csv
  • · report.md
  • · result.json
Requires
  • · pandas
  • · numpy
  • · bcftools (optional)
Preconditions

--input required OR --demo flag; VCF must have SVTYPE field for non-unknown entries

Failure modes
  • · Pure BND records classify as UNKNOWN (no BND->TRA resolver)
  • · nonexistent --input path raises FileNotFoundError
  • · SVLEN stored as absolute value
Trust signals
  • · Demo VCF verified with synthetic records
  • · schema documented in references/output_contract.md
  • · adjacent genomics skills reference this