Classify structural genome variants
genomics-sv-detectionskillsetup L2★143
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