GATK Variant Caller Skill

SkillDev tools

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

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 GATK Variant Caller 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/gatk-variant-caller/SKILL.md and read by ahel’s review.

Purpose

Provide GATK best practices for germline and somatic variant calling with joint genotyping support.

Capabilities

  • HaplotypeCaller execution
  • Base quality score recalibration (BQSR)
  • Variant quality score recalibration (VQSR)
  • Joint genotyping across cohorts
  • GVCF generation and management
  • Mutect2 somatic calling

Usage Guidelines

  • Follow GATK best practices workflow
  • Apply BQSR for improved accuracy
  • Use VQSR for quality filtering when sample count permits
  • Generate GVCFs for scalable joint calling
  • Select Mutect2 for somatic variants
  • Document resource bundles and versions

Dependencies

  • GATK4
  • Picard

Process Integration

  • Whole Genome Sequencing Pipeline (wgs-analysis-pipeline)
  • Clinical Variant Interpretation (clinical-variant-interpretation)
  • Tumor Molecular Profiling (tumor-molecular-profiling)
  • Rare Disease Diagnostic Pipeline (rare-disease-diagnostics)

Signals

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