2026-05-01T23:32:03Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/260952025-12-18T12:52:03Zcom_20.500.12105_2052com_20.500.12105_2051col_20.500.12105_19616
Repisalud
author
Roos, Marco
author
Lopez-Martin, Estrella
author
Wilkinson, Mark D
2025-01-22T10:34:01Z
2025-01-22T10:34:01Z
2017
Roos, M., López Martin, E., Wilkinson, M.D. (2017). Preparing Data at the Source to Foster Interoperability across Rare Disease Resources. In: Posada de la Paz, M., Taruscio, D., Groft, S. (eds) Rare Diseases Epidemiology: Update and Overview. Advances in Experimental Medicine and Biology. 2017;vol.:1031:165-179.
10.1007/978-3-319-67144-4_9
2214-8019
978-3-319-67142-0978-3-319-67144-4
29214571
https://hdl.handle.net/20.500.12105/26095
The ability to combine heterogeneous data distributed across the globe is critically important to boost research on rare diseases, but it presents a number of methodological, representational and automation challenges. In this scenario, biomedical ontologies are of critical importance for enabling computers to aid in information retrieval and analysis across data collections.This chapter presents an approach to preparing rare disease data for integration through the application of a global standard for computer-readable data and knowledge. This includes the use of common data elements, ontological codes and computer-readable data. This approach was developed under a number of domain-relevant requirements, such as controlled access to data, independence of the original sources, and the desire to combining the data sources with other computational workflows and data platforms.
eng
Data integration
FAIR approach
Linkable data
Ontologies
Semantic model
Standardization
Preparing Data at the Source to Foster Interoperability across Rare Disease Resources.
book part
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