Overcoming challenges in rare disease registry integration using the semantic web - a clinical research perspective
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...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2023-08-01
|
| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-023-02841-z |
| _version_ | 1797451554219884544 |
|---|---|
| author | Karl Gisslander Aladdin J Mohammad Augusto Vaglio Mark A Little |
| author_facet | Karl Gisslander Aladdin J Mohammad Augusto Vaglio Mark A Little |
| author_sort | Karl Gisslander |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-09T14:55:24Z |
| format | Article |
| id | doaj.art-930e3eee3a02429785ccf514cb8ebeb4 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-03-09T14:55:24Z |
| publishDate | 2023-08-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-930e3eee3a02429785ccf514cb8ebeb42023-11-26T14:13:02ZengBMCOrphanet Journal of Rare Diseases1750-11722023-08-011811310.1186/s13023-023-02841-zOvercoming challenges in rare disease registry integration using the semantic web - a clinical research perspectiveKarl Gisslander0Aladdin J Mohammad1Augusto Vaglio2Mark A Little3Department of Clinical Sciences - Rheumatology, Lund UniversityDepartment of Clinical Sciences - Rheumatology, Lund UniversityDepartment of Biomedical, Experimental and Clinical Sciences, University of FlorenceTTMI, Trinity Health Kidney CentreAbstract 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.https://doi.org/10.1186/s13023-023-02841-zRare diseaseSemantic webFAIRificationData integrationVasculitisRegistry |
| spellingShingle | Karl Gisslander Aladdin J Mohammad Augusto Vaglio Mark A Little Overcoming challenges in rare disease registry integration using the semantic web - a clinical research perspective Orphanet Journal of Rare Diseases Rare disease Semantic web FAIRification Data integration Vasculitis Registry |
| title | Overcoming challenges in rare disease registry integration using the semantic web - a clinical research perspective |
| title_full | Overcoming challenges in rare disease registry integration using the semantic web - a clinical research perspective |
| title_fullStr | Overcoming challenges in rare disease registry integration using the semantic web - a clinical research perspective |
| title_full_unstemmed | Overcoming challenges in rare disease registry integration using the semantic web - a clinical research perspective |
| title_short | Overcoming challenges in rare disease registry integration using the semantic web - a clinical research perspective |
| title_sort | overcoming challenges in rare disease registry integration using the semantic web a clinical research perspective |
| topic | Rare disease Semantic web FAIRification Data integration Vasculitis Registry |
| url | https://doi.org/10.1186/s13023-023-02841-z |
| work_keys_str_mv | AT karlgisslander overcomingchallengesinrarediseaseregistryintegrationusingthesemanticwebaclinicalresearchperspective AT aladdinjmohammad overcomingchallengesinrarediseaseregistryintegrationusingthesemanticwebaclinicalresearchperspective AT augustovaglio overcomingchallengesinrarediseaseregistryintegrationusingthesemanticwebaclinicalresearchperspective AT markalittle overcomingchallengesinrarediseaseregistryintegrationusingthesemanticwebaclinicalresearchperspective |