Genetic & genomic

gnomAD & 1000 Genomes

Population allele-frequency references
"Population allele frequencies and gene-level constraint at the scale every diagnostic needs."
allele-frequencypopulationconstraint

About the resource

gnomAD — the Genome Aggregation Database, run from the Broad Institute — is the largest publicly available aggregation of human exome and genome sequencing. The v4 release combined more than 730,000 exomes and 76,000 genomes from unrelated individuals across diverse ancestries, with quality-filtered variant calls, ancestry-stratified allele frequencies and gene-level constraint metrics (pLI, missense Z, LOEUF, the constraint sub-region scores).

It is indispensable for filtering candidate disease variants: any variant common in gnomAD is unlikely to cause a severe rare disease, and constraint metrics tell you which genes the population can tolerate disruption of. The earlier 1000 Genomes Project, completed in 2015, remains widely cited for population-genetic diversity and is integrated into many reference pipelines.

What you'd use it for

  1. 01Filter candidate variants by population allele frequency
  2. 02Score a gene's tolerance to loss-of-function via LOEUF or pLI
  3. 03Look up ancestry-stratified frequencies for a variant of interest
  4. 04Compute gene-level constraint subregions for diagnostic prioritisation

How you access it

Web UIVCF FTP downloadsBigQuery / Hail tablesGraphQL API

Recent updates

  • 30 Apr 2026v4.2 cohort update — 12,000 new exomes from underrepresented populations; constraint metrics regenerated.

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