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gnomAD Carrier Frequency Calculator

Vue.js TypeScript Vite Vuetify License: MIT

Live App Documentation

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.

gnomAD Carrier Frequency Calculator screenshot

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+ and Bun.

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

# Install dependencies
bun install

# Start development server
bun 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.