Browsing Computer Science (Scholarly Publications) by Subject "rare diseases"
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Enhancing Rare Disease Research with Semantic Integration of Environmental and Health Data
(ACM, 2021)Knowledge Graph (KG) approaches are increasingly being used for data integration processes to combine clinical data with other data sources. Health Data Researchers (HDR) could benefit from these technologies since they ... -
Towards A Rare Disease Registry Standard: Semantic Mapping of Common Data Elements Between FAIRVASC and the European Joint Programme for Rare Disease
(2022)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 ...