{"id":11747,"date":"2023-07-13T11:10:54","date_gmt":"2023-07-13T15:10:54","guid":{"rendered":"https:\/\/ncbiinsights.ncbi.nlm.nih.gov\/?p=11747"},"modified":"2023-07-18T13:57:17","modified_gmt":"2023-07-18T17:57:17","slug":"dbgap-third-party-annotations","status":"publish","type":"post","link":"https:\/\/ncbiinsights.ncbi.nlm.nih.gov\/2023\/07\/13\/dbgap-third-party-annotations\/","title":{"rendered":"dbGaP: Making it Easier to Find Study Data with Third-Party Annotations"},"content":{"rendered":"
The <\/span>database of Genotypes and Phenotypes (dbGaP)<\/span><\/a> is a free resource that contains human data from a variety of large-scale studies. While you can\u2019t view individual-level data without applying for controlled access, you can easily find dbGaP studies using the <\/span>dbGaP Advanced Search<\/span><\/a> (see screenshot below) and quickly filter studies based on study variables, molecular data type, study focus, NIH Institute, study consent, and more. Third-party annotations and mapping of phenotypic and study variables to controlled vocabularies allow you to search across studies. Once you find a study of interest, you can follow the <\/span>Authorized Access link<\/span><\/a> on records to apply for access.<\/span>\u00a0<\/span><\/p>\n <\/p>\n Outside groups have also provided additional annotations to help standardize and harmonize the terms used to describe phenotypes and variables. These include mapping to controlled vocabularies in the <\/span>Unified Medical Language System UMLS Metathesaurus<\/span><\/a> including the <\/span>Logical Observation Identifiers Names and Codes (LOINC)<\/span><\/a> vocabulary or directly to UMLS <\/span>Concept Unique Identifiers (CUI)<\/span><\/a>.\u00a0\u00a0<\/span>\u00a0<\/span><\/p>\n The annotated vocabularies will also be included in the dbGaP FHIR schema searchable through the dbGaP <\/span>FHIR API<\/span><\/a>.<\/span>\u00a0<\/span><\/p>\n Follow us on Twitter<\/span>\u202f<\/span>@NCBI<\/span><\/a>\u202fand\u202f<\/span>join our mailing list<\/span><\/a>\u202f<\/span>to keep up to date with dbGaP and other NCBI news.<\/span>\u202f\u00a0<\/span>\u00a0<\/span><\/p>\n If you have questions or would like to provide feedback, please reach out to us at<\/span> info@ncbi.nlm.nih.gov<\/span><\/a>.\u00a0\u00a0<\/span>\u00a0<\/span><\/p>\n \u00a0<\/span><\/p>\n","protected":false},"excerpt":{"rendered":" The database of Genotypes and Phenotypes (dbGaP) is a free resource that contains human data from a variety of large-scale studies. While you can\u2019t view individual-level data without applying for controlled access, you can easily find dbGaP studies using the dbGaP Advanced Search (see screenshot below) and quickly filter studies based on study variables, molecular … Continue reading dbGaP: Making it Easier to Find Study Data with Third-Party Annotations<\/span> Phenotypic and study variables include:<\/h5>\n
\n
<\/p>\n
Organizations doing the annotations include:<\/h5>\n
\n
Stay up to date<\/h5>\n
Questions?<\/h5>\n