structural-variant-detector

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

509 stars

Best use case

structural-variant-detector is best used when you need a repeatable AI agent workflow instead of a one-off prompt.

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

Teams using structural-variant-detector should expect a more consistent output, faster repeated execution, less prompt rewriting.

When to use this skill

  • You want a reusable workflow that can be run more than once with consistent structure.

When not to use this skill

  • You only need a quick one-off answer and do not need a reusable workflow.
  • You cannot install or maintain the underlying files, dependencies, or repository context.

Installation

Claude Code / Cursor / Codex

$curl -o ~/.claude/skills/structural-variant-detector/SKILL.md --create-dirs "https://raw.githubusercontent.com/a5c-ai/babysitter/main/library/specializations/domains/science/bioinformatics/skills/structural-variant-detector/SKILL.md"

Manual Installation

  1. Download SKILL.md from GitHub
  2. Place it in .claude/skills/structural-variant-detector/SKILL.md inside your project
  3. Restart your AI agent — it will auto-discover the skill

How structural-variant-detector Compares

Feature / Agentstructural-variant-detectorStandard Approach
Platform SupportNot specifiedLimited / Varies
Context Awareness High Baseline
Installation ComplexityUnknownN/A

Frequently Asked Questions

What does this skill do?

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

Where can I find the source code?

You can find the source code on GitHub using the link provided at the top of the page.

SKILL.md Source

# 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)

Related Skills

homoglyph-detector

509
from a5c-ai/babysitter

Byte-level Unicode homoglyph detection for identifying invisible character substitutions in code

geant4-detector-simulator

509
from a5c-ai/babysitter

Geant4 detector simulation skill for particle transport, detector geometry, and physics process modeling

loop-invariant-generator

509
from a5c-ai/babysitter

Automatically generate and verify loop invariants for algorithm correctness proofs

fea-structural-engine

509
from a5c-ai/babysitter

Finite Element Analysis skill for linear and nonlinear structural analysis, modal analysis, and load combination processing

vep-variant-annotator

509
from a5c-ai/babysitter

Variant Effect Predictor skill for comprehensive variant annotation with clinical database integration

gatk-variant-caller

509
from a5c-ai/babysitter

GATK best practices skill for germline and somatic variant calling with joint genotyping

fusion-gene-detector

509
from a5c-ai/babysitter

Gene fusion detection skill for oncology applications with multiple caller integration

deepvariant-caller

509
from a5c-ai/babysitter

DeepVariant deep learning variant calling skill for high-accuracy SNV and indel detection

acmg-variant-classifier

509
from a5c-ai/babysitter

ACMG/AMP variant classification skill for systematic pathogenicity assessment

fea-structural

509
from a5c-ai/babysitter

Expert FEA skill for aerospace structural analysis workflows

memory-leak-detector

509
from a5c-ai/babysitter

Detect memory leaks in desktop applications through heap analysis and object tracking

fairlearn-bias-detector

509
from a5c-ai/babysitter

Fairness assessment skill using Fairlearn for bias detection, mitigation, and compliance reporting.