gnomAD & 1000 Genomes
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
- 01Filter candidate variants by population allele frequency
- 02Score a gene's tolerance to loss-of-function via LOEUF or pLI
- 03Look up ancestry-stratified frequencies for a variant of interest
- 04Compute gene-level constraint subregions for diagnostic prioritisation
How you access it
Recent updates
- 30 Apr 2026v4.2 cohort update — 12,000 new exomes from underrepresented populations; constraint metrics regenerated.