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variant-interpretation-acmg

Maintainer FreedomIntelligence · Last updated April 1, 2026

ACMG/AMP variant interpretation with evidence-based classification framework.

OpenClawNanoClawAnalysisReproductionvariant-interpretation-acmg🧠 bioos extended suitedrug discovery & designacmg

Original source

FreedomIntelligence/OpenClaw-Medical-Skills

https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/variant-interpretation-acmg

Maintainer
FreedomIntelligence
License
MIT
Last updated
April 1, 2026

Skill Snapshot

Key Details From SKILL.md

2 min

Key Notes

  • The Variant Interpretation Skill automates the classification of genetic variants (Pathogenic, Benign, VUS) using a rules-based engine derived from ACMG guidelines.
  • When analyzing a VCF file for clinical reporting.
  • To determine the clinical significance of a specific mutation (e.g., BRCA1 c.123A>G).
  • To aggregate evidence (population freq, computational predictions) into a final verdict.
  • When analyzing a VCF file for clinical reporting. To determine the clinical significance of a specific mutation (e.g., BRCA1 c.123A>G). * To aggregate evidence (population freq, computational predictions) into a final verdict.

Source Doc

Excerpt From SKILL.md

Core Capabilities

  1. Rule Scoring: Applies codes like PVS1 (Null variant), PM2 (Rare), PP3 (In silico).
  2. Classification: Combines scores to reach a verdict (Pathogenic, Likely Pathogenic, VUS, etc.).
  3. Explanation: Provides the logic/evidence used for the classification.

Workflow

  1. Input: Variant details (Gene, HGVS, Consequence) or Evidence codes directly.
  2. Process: Sums weights of applied ACMG criteria.
  3. Output: Final classification and score breakdown.

Example Usage

User: "Classify a variant with evidence PVS1 and PM2."

Agent Action:

Use cases

  • Use variant-interpretation-acmg for medicinal chemistry and drug-discovery work.
  • Apply variant-interpretation-acmg to compound, target, or screening workflows.

Not for

  • Do not rely on this catalog entry alone for installation or maintenance details.

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