--- name: giab-benchmark-validator description: Genome in a Bottle benchmark validation skill for pipeline accuracy assessment allowed-tools: - Read - Write - Glob - Grep - Edit - WebFetch - WebSearch - Bash metadata: version: "1.0" category: bioinformatics tags: - infrastructure - validation - benchmark - giab --- # 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)