Semantic data model of the set phenopacket building blocks

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Status: The rdf model is still in an early development stage. The current version of the model is intended for internal use and testing purpose only.

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The goal of this work is to improve machine interoperable of phenopacket (the 'I' in FAIR). Version 0.1.0. License MIT.

Here, we present a semantic data model of the set of phenopacket building blocks approved by the GA4GH Steering Committee. There are 18 phenopacket building blocks: Age, AgeRange, Biosample, Disease, Evidence, ExternalReference, Gene, HtsFile, Individual, KaryotypicSex, MetaData, OntologyClass, Pedigree, PhenotypicFeature, Procedure, Resource, Sex, Variant.

The semantic data model is presented below describing some of these 18 phenopacket building blocks.

Blocks

• Individual
• Sample
• Disease
• HTSFile
• Procedures

Feedback

Your feedback is more than welcome it will help us improve our semantic data model. Please use github issues to provide your feedback. If you are new to github please see this video to know more about github issues.