{"prefix":"gnomad","name":"Genome Aggregation Database","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).","uri_format":"https://gnomad.broadinstitute.org/variant/$1","providers":[],"homepage":"https://gnomad.broadinstitute.org","contact":{"name":"Heidi L. Rehm","orcid":"0000-0002-6025-0015","email":"hrehm@mgh.harvard.edu","github":"heidirehm"},"example":"1-55516888-G-GA","example_extras":["DUP_2_5708","M-8602-T-C"],"license":"CC0-1.0","deprecated":false,"mappings":{"integbio":"nbdc02561"},"synonyms":[],"keywords":["genetic variation","genome/gene","health/disease","sequence"],"publications":[{"pubmed":"32461654","doi":"10.1038/s41586-020-2308-7","pmc":"PMC7334197","title":"The mutational constraint spectrum quantified from variation in 141,456 humans","year":2020},{"pubmed":"32461652","doi":"10.1038/s41586-020-2287-8","pmc":"PMC7334194","title":"A structural variation reference for medical and population genetics","year":2020}],"appears_in":[],"depends_on":[],"namespace_in_lui":false,"contributor":{"name":"Charles Tapley Hoyt","orcid":"0000-0003-4423-4370","email":"cthoyt@gmail.com","github":"cthoyt"},"preferred_prefix":"gnomad","github_request_issue":695}