# Gnomad Database

> gnomAD Database Skill Overview

- Skill: `lamm-mit/gnomad-database` (Agent Skill)
- Install (CLI): `npx skillmds@latest add lamm-mit/gnomad-database`
- Raw SKILL.md: https://api.skillmd.com/api/skills/lamm-mit/gnomad-database/raw
- Safety review: pending
- Works with: Claude Code, Claude.ai, OpenAI Codex
- Category: Coding & Dev Tools
- Author: lamm-mit (https://skillmd.com/u/lamm-mit)
- Updated: 2026-09-17
- Page: https://skillmd.com/skills/lamm-mit/gnomad-database

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# gnomAD Database Skill Overview

The provided content documents a Claude agent skill for querying the **Genome Aggregation Database (gnomAD)**. This resource enables genetic variant interpretation through population frequency data and constraint metrics.

## Key Capabilities

The skill provides access to gnomAD v4, containing "exome sequences from 730,947 individuals and genome sequences from 76,215 individuals across diverse ancestries." Users can:

- **Query variant frequencies** by gene or specific genomic position via GraphQL API
- **Assess loss-of-function tolerance** using pLI and LOEUF scores
- **Analyze population-stratified data** across ancestries (African, East Asian, European, South Asian, etc.)
- **Apply ACMG classification criteria** for variant pathogenicity assessment

## Primary Use Cases

The documentation highlights three main workflows: variant pathogenicity assessment (filtering benign common variants), gene prioritization in rare disease research, and population genetics analysis.

## Technical Implementation

The skill leverages GraphQL queries against `https://gnomad.broadinstitute.org/api` with support for multiple datasets (gnomad_r4, gnomad_r3, gnomad_r2_1) and reference genomes (GRCh38, GRCh37).

**License**: CC0-1.0 (public domain)