gatk-variant-caller

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

509 stars

Best use case

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

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

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

Manual Installation

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

How gatk-variant-caller Compares

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

Frequently Asked Questions

What does this skill do?

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

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

# GATK Variant Caller Skill

## 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)

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