agentsclimarketplace
Sign in

Variant interpretation acmg

Skill FridrichMethod/awesome-skills/skills/variant-interpretation-acmg

Classifies genetic variants according to ACMG (American College of Medical Genetics) guidelines.From its SKILL.md

Install
npx -y skills add FridrichMethod/awesome-skills --skill variant-interpretation-acmg

Assembled from the repository path, not quoted from the project. Check it against their README if it does not work.

2 things to look at

  • no licenseNo license file was found in the repository. Code published without one is not open source by default, so using it at work is a question for whoever answers licensing questions where you are.
  • 13 stars13 stars. Stars are a popularity signal and not a quality one, but at this level it is likely that nobody has read this closely except its author, and you would be relying on your own review.

SKILL.md

1.9 KB, 415 tokens by cl100k_base, as published. Nobody here has run it

<!-- # COPYRIGHT NOTICE # This file is part of the "Universal Biomedical Skills" project. # Copyright (c) 2026 MD BABU MIA, PhD <[email protected]> # All Rights Reserved. # # This code is proprietary and confidential. # Unauthorized copying of this file, via any medium is strictly prohibited. # # Provenance: Authenticated by MD BABU MIA -->

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:

python3 Skills/Genomics/Variant_Interpretation/acmg_classifier.py \
    --evidence "PVS1,PM2"
<!-- AUTHOR_SIGNATURE: 9a7f3c2e-MD-BABU-MIA-2026-MSSM-SECURE -->

What ships with it: 3 files

10.1 KB alongside SKILL.md, 1 of them executable

bioSkills/

Keep looking

Skills are one crate of 325,949. Ordering is by how many stacks a row turns up in, so the top of any crate is what has actually been picked rather than what has the most stars.