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Install with the open skills CLI (global, non-interactive — available in every Claude Code session):
npx skills add FreedomIntelligence/OpenClaw-Medical-Skills --skill "variant-interpretation-acmg" -g -a claude-code -yOr manually — clone and copy the skill directory (SKILL.md + companion files):
git clone --depth 1 https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills /tmp/OpenClaw-Medical-Skills && cp -r /tmp/OpenClaw-Medical-Skills/skills/variant-interpretation-acmg ~/.claude/skills/variant-interpretation-acmgThis skill contains nested skills — each is browsable and installable on its own.
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This skill is a directory: SKILL.md is the entry point; the files below ship with it.
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# This file is part of the "Universal Biomedical Skills" project.
# Copyright (c) 2026 MD BABU MIA, PhD <md.babu.mia@mssm.edu>
# All Rights Reserved.
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# This code is proprietary and confidential.
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---
name: 'variant-interpretation-acmg'
description: 'Classifies genetic variants according to ACMG (American College of Medical Genetics) guidelines.'
measurable_outcome: Execute skill workflow successfully with valid output within 15 minutes.
allowed-tools:
- read_file
- run_shell_command
---
# Variant Interpretation (ACMG)
The **Variant Interpretation Skill** automates the classification of genetic variants (Pathogenic, Benign, VUS) using a rules-based engine derived from ACMG guidelines.
## When to Use This Skill
* 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.
## 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**:
```bash
python3 Skills/Genomics/Variant_Interpretation/acmg_classifier.py \
--evidence "PVS1,PM2"
```
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Gateway to 400+ bioinformatics skills from bioSkills and ClawBio. Covers genomics, transcriptomics, single-cell, variant calling, pharmacogenomics, metagenomics, structural biology, and more. Fetches domain-specific reference material on demand.
> Pharmaceutical research assistant for drug discovery workflows. Search bioactive compounds on ChEMBL, calculate drug-likeness (Lipinski Ro5, QED, TPSA, synthetic accessibility), look up drug-drug interactions via OpenFDA, interpret ADMET profiles, and assist with lead optimization. Use for medicinal chemistry questions, molecule property analysis, clinical pharmacology, and open-science drug research.