gnomad-database
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:
- Variant frequency lookup: Checking if a variant is rare, common, or absent in the general population
- Pathogenicity assessment: Rare variants (MAF < 1%) are candidates for disease causation; gnomAD helps filter benign common variants
- Loss-of-function intolerance: Using pLI and LOEUF scores to assess whether a gene tolerates protein-truncating variants
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