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claude-codescience

Babysitter structural-variant-detector

Structural variant detection skill for identifying CNVs, inversions, translocations, and complex rearrangements

install
source · Clone the upstream repo
git clone https://github.com/a5c-ai/babysitter
Claude Code · Install into ~/.claude/skills/
T=$(mktemp -d) && git clone --depth=1 https://github.com/a5c-ai/babysitter "$T" && mkdir -p ~/.claude/skills && cp -r "$T/library/specializations/domains/science/bioinformatics/skills/structural-variant-detector" ~/.claude/skills/a5c-ai-babysitter-structural-variant-detector && rm -rf "$T"
manifest: library/specializations/domains/science/bioinformatics/skills/structural-variant-detector/SKILL.md
tags
#variant-analysis#structural-variants#cnv#sv#bioinformatics#genomics
source content

Structural Variant Detector Skill

Purpose

Enable structural variant detection for identifying CNVs, inversions, translocations, and complex rearrangements.

Capabilities

  • Split-read and paired-end SV calling
  • Copy number variation detection
  • Mobile element insertion detection
  • Complex SV resolution
  • SV annotation and visualization
  • Multi-caller integration

Usage Guidelines

  • Use multiple callers for comprehensive detection
  • Integrate results from different algorithms
  • Validate SVs with independent methods
  • Annotate SVs with functional impact
  • Visualize SVs for manual review
  • Document caller combinations and filters

Dependencies

  • Manta
  • DELLY
  • CNVkit
  • LUMPY
  • GRIDSS

Process Integration

  • Whole Genome Sequencing Pipeline (wgs-analysis-pipeline)
  • Tumor Molecular Profiling (tumor-molecular-profiling)
  • Long-Read Sequencing Analysis (long-read-analysis)