Towards A Rare Disease Registry Standard: Semantic Mapping of Common Data Elements Between FAIRVASC and the European Joint Programme for Rare Disease
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2022Access:
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Beyza Yaman, Lucy Hederman, Declan O'Sullivan, Mark Little, Kris McGlinn, 'Towards A Rare Disease Registry Standard: Semantic Mapping of Common Data Elements Between FAIRVASC and the European Joint Programme for Rare Disease', 5th Workshop on Semantic Web solutions for large-scale biomedical data analytics (SeWeBMeDA-2022)Download Item:
_SeWeBMeDA_2022.pdf (Published (author's copy) - Peer Reviewed) 364.1Kb
Abstract:
This paper describes the extension of the FAIRVASC rare
disease ontology, with Joint Research Council Common Data Elements
(CDE), and mapping to the European Joint Programme on Rare Dis-
eases (EJP RD) CDE ontology. We use the rare autoimmune condition
ANCA vasculitis as a model disease to illustrate this. Semantic modelling
of CDE for Rare Diseases over registry data is important to represent
the specific concepts around these conditions. We describe the develop-
ment of an ontology which facilitates the simultaneous uplift of tabular
data into a common RDF format from several registries. The ontology
allows the data to be integrated across the registries and increases the
interoperability and standardisation among datasets, thus enhancing col-
laboration with external stakeholders. The ontology, therefore, creates an
effective rare disease research environment which enables the disease and
its impact on the patient to be investigated in an effective manner across
national borders. This paper presents the methodology and road map to
implement the CDE ontology for the health domain.
Sponsor
Grant Number
Health Research Board (HRB)
MRCG-2016-12
The Meath Foundation
208591
Science Foundation Ireland (SFI)
13/RC/2016_P2
Author's Homepage:
http://people.tcd.ie/yamanbhttp://people.tcd.ie/mlittle
http://people.tcd.ie/hederman
http://people.tcd.ie/osulldps
Other Titles:
5th Workshop on Semantic Web solutions for large-scale biomedical data analytics (SeWeBMeDA-2022)Type of material:
Conference PaperCollections:
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Full text availableKeywords:
Ontology, Health informatics, Rare diseaseSubject (TCD):
Digital Engagement , Health informatics , ontology , rare diseasesLicences: