variant-calling
Installation
SKILL.md
Variant Calling (GATK4) — Pipeline Skill (Thin Scaffold)
Overview
Adds decision logic for VQSR vs hard filters, WES vs WGS parameter differences, and GATK4-specific gotchas that LLMs frequently get wrong (filter thresholds, GVCF requirements, reference consistency).
Usage
- Activate when choosing between VQSR and hard filters for a given cohort size
- Activate when setting up WES vs WGS pipeline parameters
- Activate when running Mutect2 tumor/normal or tumor-only somatic calling