gnomad-database

Query gnomAD (Genome Aggregation Database) for population allele frequencies, variant constraint scores (pLI, LOEUF), and loss-of-function intolerance. Essential for variant pathogenicity interpretation, rare disease genetics, and identifying loss-of-function intolerant genes.

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---
name: gnomad-database
description: Query gnomAD (Genome Aggregation Database) for population allele frequencies, variant constraint scores (pLI, LOEUF), and loss-of-function intolerance. Essential for variant pathogenicity interpretation, rare disease genetics, and identifying loss-of-function intolerant genes.
license: CC0-1.0
metadata:
    skill-author: Kuan-lin Huang
---

# gnomAD Database

## Overview

The Genome Aggregation Database (gnomAD) is the largest publicly available collection 
How to Use

Recommended: Install to project (local)

mkdir -p .claude/skills
curl -o .claude/skills/gnomad-database.md \
  https://raw.githubusercontent.com/K-Dense-AI/claude-scientific-skills/main/scientific-skills/gnomad-database/SKILL.md

Skill is scoped to this project only. Add .claude/skills/ to your .gitignoreif you don't want to commit it.

Alternative: Clone full repo

git clone https://github.com/K-Dense-AI/claude-scientific-skills

Then reference at scientific-skills/gnomad-database/SKILL.md