gnomAD Database

Overview

The Genome Aggregation Database (gnomAD) is the largest publicly available collection of human genetic variation, aggregated from large-scale sequencing projects. gnomAD v4 contains exome sequences from 730,947 individuals and genome sequences from 76,215 individuals across diverse ancestries. It provides population allele frequencies, variant consequence annotations, and gene-level constraint metrics that are essential for interpreting the clinical significance of genetic variants.

Key resources:

• gnomAD browser: https://gnomad.broadinstitute.org/
• GraphQL API: https://gnomad.broadinstitute.org/api
• Data downloads: https://gnomad.broadinstitute.org/downloads
• Documentation: https://gnomad.broadinstitute.org/help

When to Use This Skill

Use gnomAD when: