gatk-variant-caller

name	gatk-variant-caller
description	GATK best practices skill for germline and somatic variant calling with joint genotyping
allowed-tools	["Read","Write","Glob","Grep","Edit","WebFetch","WebSearch","Bash"]
metadata	{"version":"1.0","category":"bioinformatics","tags":["variant-analysis","gatk","snv","indel"]}
graph	{"domains":["domain:bioinformatics"],"specializations":["specialization:biomedical-informatics"],"skillAreas":["skill-area:statistical-analysis","skill-area:python-data-pipelines","skill-area:data-analysis"],"workflows":["workflow:experiment-design"],"roles":["role:research-engineer","role:biomedical-engineer"]}

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)