05/04/2024
This deliverable describes the development and online publication of the EPND Glossary and a FAIR Implementation Profile for Case Study 1. These resources address two complementary requirements for collaborative neurodegenerative disease research: a shared understanding of terminology across disciplines, and explicit specifications for combining data and metadata from different sources.
The EPND Glossary was developed using NocoDB, an open-source tool supporting collaborative editing and publication. Experts from across the consortium contributed definitions, references and additional terms within their areas of expertise. At the time of reporting, the glossary contained 524 entries across eight modules: Acronyms, Hub Framework, Data Terms, Legal, Regulatory, Biomarker, Business and Clinical. A public view makes the content available to consortium members and the wider community, with reuse supported under a Creative Commons Attribution licence.
The report also documents a common data model for Case Study 1, covering identification, demographics, diagnosis, global cognitive measures, genetics, samples and amyloid PET. The model was represented using Shapes Constraint Language (SHACL). To support collaboration between clinical and technical contributors, Python scripts were developed to convert an Excel specification of data elements and standard terms into a SHACL file.
Alongside this model, a CEDAR template was created to describe 17 bronze-level cohort metadata properties, primarily covering contact details and basic information about available data. The implementation choices were recorded using the FIP Wizard and published in machine-readable and human-readable formats.
Both resources were designed to evolve. The glossary supports ongoing revisions and additions, while publication of the FAIR Implementation Profile as a nanopublication enables versioning and retrieval of updated specifications. The report presents SHACL and CEDAR as initial technical implementations that can be revised as the project develops.
For more information, find the full Deliverable report here.
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