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)