appears_in: []
contact:
  email: hrehm@mgh.harvard.edu
  github: heidirehm
  name: Heidi L. Rehm
  orcid: 0000-0002-6025-0015
contributor:
  email: cthoyt@gmail.com
  github: cthoyt
  name: Charles Tapley Hoyt
  orcid: 0000-0003-4423-4370
depends_on: []
deprecated: false
description: The Genome Aggregation Database (gnomAD) is a resource developed by an
  international coalition of investigators, with the goal of aggregating and harmonizing
  both exome and genome sequencing data from a wide variety of large-scale sequencing
  projects, and making summary data available for the wider scientific community (from
  https://gnomad.broadinstitute.org).
example: 1-55516888-G-GA
example_extras:
- DUP_2_5708
- M-8602-T-C
github_request_issue: 695
homepage: https://gnomad.broadinstitute.org
keywords:
- genetic variation
- genome/gene
- health/disease
- sequence
license: CC0-1.0
mappings:
  integbio: nbdc02561
name: Genome Aggregation Database
namespace_in_lui: false
preferred_prefix: gnomad
prefix: gnomad
providers: []
publications:
- doi: 10.1038/s41586-020-2308-7
  pmc: PMC7334197
  pubmed: '32461654'
  title: The mutational constraint spectrum quantified from variation in 141,456 humans
  year: 2020
- doi: 10.1038/s41586-020-2287-8
  pmc: PMC7334194
  pubmed: '32461652'
  title: A structural variation reference for medical and population genetics
  year: 2020
synonyms: []
uri_format: https://gnomad.broadinstitute.org/variant/$1
