gnomAD Carrier Frequency Calculator

Calculate carrier frequencies for autosomal recessive conditions using gnomAD population data.

For Research Use Only -- This tool is intended for research and educational purposes. It is not a validated clinical diagnostic tool. Outputs must be independently reviewed and verified by qualified professionals before any clinical use.

Features

• Direct gnomAD Queries - Queries gnomAD GraphQL API directly from the browser
• Population-Specific Frequencies - Calculate carrier frequencies for multiple populations
• Configurable Filters - Toggle LoF HC, missense, and ClinVar pathogenicity filters
• Variant Details - View contributing variants with HGVS nomenclature and allele frequencies
• ClinGen Validation - Automatic gene-disease validity checking against ClinGen curations
• Gene Constraint Scores - Display pLI and LOEUF constraint metrics
• Text Generation - Generate German and English documentation text from customizable templates
• Dark/Light Theme - Automatic theme detection with manual override

Quick Start

Requires Node.js 18+ or Bun.

# Clone the repository
git clone https://github.com/berntpopp/gnomad-carrier-frequency.git
cd gnomad-carrier-frequency

# Install dependencies
bun install
# or: npm install

# Start development server
bun run dev
# or: npm run dev

The app opens at http://localhost:5173/gnomad-carrier-frequency/

For full documentation, visit gnomad-carrier-frequency.kidney-genetics.org/docs.

License & Citation

This project is licensed under the MIT License.

To cite this tool, see the Citation page.