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Overcoming challenges in rare disease registry integration using the semantic web - a clinical research perspective

Gisslander, Karl LU orcid ; Mohammad, Aladdin LU ; Vaglio, Augusto and Little, Mark A. (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:
author
; ; and
organization
publishing date
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}},
}