Structural Variant Detector Skill

SkillDev tools

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

Instructions available. Your AI can read the instructions. Execution depends on the setup they require.

Account requirements not reviewed. Check the skill instructions before use; ahel provides instructions and does not run this skill.

Add ahel to your AI once: Claude, ChatGPT, Cursor, Claude Code or Codex. Then ask it to use this.

Then ask your AI: use the Structural Variant Detector Skill skill

What this skill tells your AI

The instructions your AI receives, as published by a5c-ai/babysitter in library/specializations/domains/science/bioinformatics/skills/structural-variant-detector/SKILL.md and read by ahel’s review.

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)

Signals

GitHub stars: 2k
Forks: 112
Last commit: Sep 2026

Advanced

Item type: skill
Key: structural-variant-detector
Source: github.com/a5c-ai/babysitter

github.com/a5c-ai/babysitter