acmg-variant-classifier

Included with Lifetime

$97 forever

ACMG/AMP variant classification skill for systematic pathogenicity assessment

General

What this skill does


# ACMG Variant Classifier Skill

## Purpose
Enable ACMG/AMP variant classification for systematic pathogenicity assessment following clinical guidelines.

## Capabilities
- Automated evidence criteria application
- Population frequency filtering
- In silico prediction integration
- Literature evidence curation
- Inheritance pattern analysis
- Classification report generation

## Usage Guidelines
- Apply ACMG criteria systematically
- Document evidence for each criterion
- Consider inheritance patterns in assessment
- Review literature for supporting evidence
- Generate clear classification reports
- Track classification changes over time

## Dependencies
- InterVar
- VarSome API
- ClinVar

## Process Integration
- Clinical Variant Interpretation (clinical-variant-interpretation)
- Rare Disease Diagnostic Pipeline (rare-disease-diagnostics)
- Newborn Screening Genomics (newborn-screening-genomics)

Files: 1

Size: 1.2 KB

Complexity: 8/100

Category: General

Source: https://github.com/a5c-ai/babysitter/tree/main/library/specializations/domains/science/bioinformatics/skills/acmg-variant-classifier

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