Overcoming challenges in rare disease registry integration using the semantic web - a clinical research perspective
(2023) In Orphanet Journal of Rare Diseases 18. p.1-3- Abstract
- The growing number of disease-specific patient registries for rare diseases has highlighted the need for registry interoperability and data linkage, leading to large-scale rare disease data integration projects using Semantic Web based solutions. These technologies may be difficult to grasp for rare disease experts, leading to limited involvement by domain expertise in the data integration process. Here, we propose a data integration framework starting from the perspective of the clinical researcher, allowing for purposeful rare disease registry integration driven by clinical research questions.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/077c684e-2109-4670-a8de-1d1433f64545
- author
- Gisslander, Karl LU ; Mohammad, Aladdin LU ; Vaglio, Augusto and Little, Mark A.
- organization
- publishing date
- 2023-08-29
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Orphanet Journal of Rare Diseases
- volume
- 18
- article number
- 253
- pages
- 1 - 3
- publisher
- BioMed Central (BMC)
- external identifiers
-
- scopus:85168990488
- pmid:37644439
- ISSN
- 1750-1172
- DOI
- 10.1186/s13023-023-02841-z
- language
- English
- LU publication?
- yes
- id
- 077c684e-2109-4670-a8de-1d1433f64545
- date added to LUP
- 2023-10-06 09:32:32
- date last changed
- 2024-01-06 03:00:07
@article{077c684e-2109-4670-a8de-1d1433f64545, abstract = {{The growing number of disease-specific patient registries for rare diseases has highlighted the need for registry interoperability and data linkage, leading to large-scale rare disease data integration projects using Semantic Web based solutions. These technologies may be difficult to grasp for rare disease experts, leading to limited involvement by domain expertise in the data integration process. Here, we propose a data integration framework starting from the perspective of the clinical researcher, allowing for purposeful rare disease registry integration driven by clinical research questions.}}, author = {{Gisslander, Karl and Mohammad, Aladdin and Vaglio, Augusto and Little, Mark A.}}, issn = {{1750-1172}}, language = {{eng}}, month = {{08}}, pages = {{1--3}}, publisher = {{BioMed Central (BMC)}}, series = {{Orphanet Journal of Rare Diseases}}, title = {{Overcoming challenges in rare disease registry integration using the semantic web - a clinical research perspective}}, url = {{http://dx.doi.org/10.1186/s13023-023-02841-z}}, doi = {{10.1186/s13023-023-02841-z}}, volume = {{18}}, year = {{2023}}, }