broad-institute/gnomAD v4.1
DemoGenome aggregation database — 807k exomes, 76k genomes with variant frequencies across diverse populations.
The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators that aggregates and harmonizes both exome and genome data from a wide range of large-scale sequencing projects. This release spans 807,162 exomes and 76,215 genomes from unrelated individuals sequenced as part of various disease-specific and population genetic studies.
What’s included
- Variant frequencies across 8 major population groups
- Loss-of-function constraint metrics for every protein-coding gene
- Structural variants from short-read WGS
- Mitochondrial variant calls from all available samples
Use cases
gnomAD is widely used for variant filtering in rare-disease diagnostics, estimating carrier frequencies for recessive conditions, and benchmarking variant-calling pipelines. The constraint metrics are a standard tool for gene-level interpretation in clinical genomics.