Source: https://github.com/aipoch/medical-research-skills

Variant Annotation

Query and interpret gene variant clinical significance from ClinVar and dbSNP databases with ACMG guideline support.

When to Use

• Use this skill when the task needs Query and annotate gene variants from ClinVar and dbSNP databases. .
• Use this skill for evidence insight tasks that require explicit assumptions, bounded scope, and a reproducible output format.
• Use this skill when you need a documented fallback path for missing inputs, execution errors, or partial evidence.

Key Features

• Scope-focused workflow aligned to: Query and annotate gene variants from ClinVar and dbSNP databases. \n.
• Packaged executable path(s): scripts/main.py.
• Reference material available in references/ for task-specific guidance.
• Structured execution path designed to keep outputs consistent and reviewable.