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classify

Classify genetic variants using the full ACMG/AMP workflow.

2|1|Updated Apr 11, 2025
Search Tags:#bioinformatics#genetics#amp#variant classification#acmg#medical genetics
One-click install
npx skills add https://github.com/yi-john-huang/acmg-amp-classifier-mcp --skill classify-yi-john-huang
Or copy as Structured Prompt for Agent▼
Please help me install this Agent Skill.
Skill: classify
Source: https://github.com/yi-john-huang/acmg-amp-classifier-mcp/tree/main/.claude/skills/classify
Command: npx skills add https://github.com/yi-john-huang/acmg-amp-classifier-mcp --skill classify-yi-john-huang

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes references (resource) and scripts (resource) components.

What problem does it solve?

This Skill automates the complex process of classifying genetic variants according to established ACMG/AMP guidelines, providing clear, evidence-based interpretations.

Core Features & Use Cases

  • Full ACMG/AMP Workflow: Handles input validation, evidence gathering from multiple databases, rule application, and classification.
  • Flexible Input: Accepts variants in various formats including HGVS, gene symbols, protein changes, and genomic coordinates.
  • Use Case: A researcher can input a novel variant like BRCA1:c.5266dupC and receive a detailed classification report, including supporting evidence and rationale, directly from the AI.

Quick Start

Use the classify skill to classify the variant NM_000492.3:c.1521_1523delCTT.

Frequently Asked Questions about classify

High-intent search queries and answers about installing and using this skill.

FAQPage Schema
How do I classify genetic variants using ACMG/AMP guidelines?▼

You can input genetic variants using HGVS notation, gene symbols, protein changes, or genomic coordinates. The skill accepts flexible input formats to accommodate various genetic variant representations for classification.

What is the ACMG/AMP variant classification workflow?▼

Yes, the skill supports optional clinical context alongside variant inputs like BRCA1:c.5266dupC. Providing clinical context helps refine the evidence gathering and application of the 28 ACMG/AMP criteria during classification.

How do I apply all 28 ACMG evidence criteria to a novel variant?▼

To apply all 28 ACMG evidence criteria to a novel variant, input the variant in a supported format like HGVS or genomic coordinates. The skill automatically applies every criterion and returns a detailed classification report.

Can I use HGVS notation for ACMG variant classification?▼

You can input genetic variants using HGVS notation, gene symbols, protein changes, or genomic coordinates. The skill accepts flexible input formats to accommodate various genetic variant representations for classification.

Does the ACMG classification tool support optional clinical context?▼

Yes, the skill supports optional clinical context alongside variant inputs like BRCA1:c.5266dupC. Providing clinical context helps refine the evidence gathering and application of the 28 ACMG/AMP criteria during classification.

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