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Structural variant detector

Skill a5c-ai/babysitter/library/specializations/domains/science/bioinformatics/skills/structural-variant-detector

Structural variant detection skill for identifying CNVs, inversions, translocations, and complex rearrangementsFrom its SKILL.md

Install
npx -y skills add a5c-ai/babysitter --skill structural-variant-detector

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SKILL.md

1.6 KB, 195 tokens by cl100k_base, as published. Nobody here has run it

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)

What ships with it

Read from the repository

Just SKILL.md. No reference files, no scripts.

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