giab-benchmark-validator

Genome in a Bottle benchmark validation skill for pipeline accuracy assessment

509 stars

Best use case

giab-benchmark-validator is best used when you need a repeatable AI agent workflow instead of a one-off prompt.

Genome in a Bottle benchmark validation skill for pipeline accuracy assessment

Teams using giab-benchmark-validator 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/giab-benchmark-validator/SKILL.md --create-dirs "https://raw.githubusercontent.com/a5c-ai/babysitter/main/library/specializations/domains/science/bioinformatics/skills/giab-benchmark-validator/SKILL.md"

Manual Installation

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

How giab-benchmark-validator Compares

Feature / Agentgiab-benchmark-validatorStandard Approach
Platform SupportNot specifiedLimited / Varies
Context Awareness High Baseline
Installation ComplexityUnknownN/A

Frequently Asked Questions

What does this skill do?

Genome in a Bottle benchmark validation skill for pipeline accuracy assessment

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

# GIAB Benchmark Validator Skill

## Purpose
Enable Genome in a Bottle benchmark validation for pipeline accuracy assessment.

## Capabilities
- Truth set comparison
- hap.py/vcfeval execution
- Sensitivity/specificity calculation
- Stratified performance metrics
- Difficult region analysis
- Validation report generation

## Usage Guidelines
- Use appropriate GIAB reference samples
- Compare against truth sets with hap.py
- Calculate sensitivity and specificity
- Stratify by region type and variant class
- Analyze performance in difficult regions
- Generate comprehensive validation reports

## Dependencies
- hap.py
- vcfeval
- GIAB resources

## Process Integration
- Analysis Pipeline Validation (pipeline-validation)
- Whole Genome Sequencing Pipeline (wgs-analysis-pipeline)

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