GIAB Benchmark Validator Skill

SkillDev tools

Genome in a Bottle benchmark validation skill for pipeline accuracy assessment

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

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 GIAB Benchmark Validator 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/giab-benchmark-validator/SKILL.md and read by ahel’s review.

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)

Signals

GitHub stars
2k
Forks
112
Last commit
Sep 2026
Advanced
Item type
skill
Key
giab-benchmark-validator
Source
github.com/a5c-ai/babysitter