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The (meta)data from the Rare Disease Synthetic Dataset (EGAD00001008392) is not encoded in a format that is readily accessible for queries through the virtual platform. To the degree that it is possible and relevant to the examples of analyses being worked on, the (meta)data should be translated to corresponding elements, values and structures in the EJP-RD data models:
Each of the mappings above should be used to create executable RML-mappings that can translate the data, as illustrated in the example to FAIR genomes genomed below (using YARRRML syntax):
The (meta)data from the Rare Disease Synthetic Dataset (EGAD00001008392) is not encoded in a format that is readily accessible for queries through the virtual platform. To the degree that it is possible and relevant to the examples of analyses being worked on, the (meta)data should be translated to corresponding elements, values and structures in the EJP-RD data models:
But also the Fairgenomes-semantic-model should be considered as a complement.
Working documents to describe mappings from EGA’s metadata schema:
Cross-linking between different types of entities (records):
Each of the mappings above should be used to create executable RML-mappings that can translate the data, as illustrated in the example to FAIR genomes genomed below (using YARRRML syntax):
Note: The example above be run using an online editor with the following example study.csv.
Mappings Care-SM:
Mappings EJP-RD metadata model:
Mappings Fairgenomes-semantic-model:
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