gnomAD Database

Overview

gnomAD is the largest publicly available collection of human genetic variation. gnomAD v4 contains exome sequences from 730,947 individuals and genome sequences from 76,215 individuals across diverse ancestries.

Key resources:

• Browser: https://gnomad.broadinstitute.org/
• GraphQL API: https://gnomad.broadinstitute.org/api
• Downloads: https://gnomad.broadinstitute.org/downloads

When to Use This Skill

• Variant frequency lookup: Checking if a variant is rare, common, or absent
• Pathogenicity assessment: Filtering benign common variants (ACMG BA1/BS1/PM2)
• Loss-of-function intolerance: pLI and LOEUF scores for gene constraint
• Population-stratified frequencies: Comparing allele frequencies across ancestries
• Constraint analysis: Identifying genes depleted of missense or LoF variation