gnomAD Genome Aggregation Database
The Genome Aggregation Database (gnomAD) is a large-scale resource that aggregates and harmonizes exome and genome sequencing data from diverse cohorts to provide high-quality human genetic variation data. It offers allele frequencies, constraint metrics, and variant annotations designed to support rare disease research, variant interpretation, and studies of human population genetics. gnomAD is openly accessible and continually updated, providing a comprehensive, standardized reference for researchers working across clinical and genomic sciences.
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Complete Metadata
| @type | Dataset |
|---|---|
| accessRights | public |
| contactPoint |
[ { "fn": "Office of Data Science Strategy (ODSS)", "@type": "Kind", "hasEmail": "mailto:ODSSInfo@mail.nih.gov" } ] |
| description | The Genome Aggregation Database (gnomAD) is a large-scale resource that aggregates and harmonizes exome and genome sequencing data from diverse cohorts to provide high-quality human genetic variation data. It offers allele frequencies, constraint metrics, and variant annotations designed to support rare disease research, variant interpretation, and studies of human population genetics. gnomAD is openly accessible and continually updated, providing a comprehensive, standardized reference for researchers working across clinical and genomic sciences. |
| distribution |
[ { "@type": "Distribution", "accessURL": "https://gnomad.broadinstitute.org/" } ] |
| identifier | https://gnomad.broadinstitute.org/ |
| inventoried | 2026-09-27 |
| keyword |
[ "Sequence biology" ] |
| publisher |
{ "name": "National Human Genome Research Institute (NHGRI)", "@type": "Organization", "subOrganizationOf": [ { "name": "National Institutes of Health (NIH)", "@type": "Organization", "subOrganizationOf": [ { "name": "U.S. Department of Health and Human Services", "@type": "Organization" } ] } ] } |
| theme |
[ { "@type": "Concept", "prefLabel": "human" } ] |
| title | gnomAD Genome Aggregation Database |