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As part of the European Joint Programme (EJP) for Rare Diseases meta data standards (see https://github.com/ejp-rd-vp/resource-metadata-schema) have been developed for rare disease registries to describe their metadata that will improve the FAIR-ness of these resources. This repository defines the ontology that describes the resource metadata sc…

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ejp-rd-vp/resource-metadata-schema-ontology

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resource-metadata-schema-ontology

As part of the European Joint Programme (EJP) for Rare Diseases resource metadata standards, the resource metadata schema has been developed for rare disease registries to describe their metadata that will improve the FAIR-ness of these resources. This repository defines the ontology that describes the resource metadata schema based on DCAT 2.0.

Tools used

This ontology is built using ROBOT. Ensure that ROBOT is installed on your computer as detailed under "1. Getting Started".

Ontologies on which the EJP RD Resource Metadata Schema Ontology is based

  1. Data Catalog Vocabulary: DCAT 2
  2. Dublin Core: DCMI Metadata Terms
  3. Friend of a friend: FOAF 20140114
  4. Semanticscience Integrated Ontology: SIO
  5. Data Use Ontology: DUO
  6. vCard Ontology: vCard. This ontology is used because it is used in DCAT for specifying contact information.

These ontologies have been downloaded to the /dependentOntologies directory. In the case of Dublin Core we needed to add the ontology IRI as ROBOT complains when an ontology IRI is not present. The file containing this change is stored as /dependentOntologies/dublin_core_terms.owl.

Basic steps taken to create the ontology.

The generateOntology.bat file can be run to generate the ontology. The basic steps are the following:

  1. For each of the ontologies used a related {OntologyName}_terms.txt file exists which contains the terms that are used in the resource metadata schema from that ontology.
  2. ROBOT is used to extract these models into the results directory {OntologyName}_module.owl files.
  3. The Biobank, PatientRegistry and Guideline classes are added using ROBOT to create the /extension/extension.owl file.
  4. ROBOT is used to merge the /results/{OntologyName}_module.owl files and the /extension/extension.owl into the ejprd_resource_metadata_ontology.owl containing the EJP RD resource metadata schema ontology.

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As part of the European Joint Programme (EJP) for Rare Diseases meta data standards (see https://github.com/ejp-rd-vp/resource-metadata-schema) have been developed for rare disease registries to describe their metadata that will improve the FAIR-ness of these resources. This repository defines the ontology that describes the resource metadata sc…

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