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Linked Registries: ...
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer
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Sernadela, P (author)
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Gonzalez-Castro, L (author)
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Carta, C (author)
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van der Horst, E (author)
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Lopes, P (author)
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Kaliyaperumal, R (author)
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Thompson, M (author)
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Thompson, R (author)
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Queralt-Rosinach, N (author)
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Lopez, E (author)
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Wood, L (author)
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Robertson, A (author)
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Lamanna, C (author)
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Gilling, M (author)
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Orth, M (author)
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- Merino-Martinez, R (author)
- Karolinska Institutet
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Posada, M (author)
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Taruscio, D (author)
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Lochmuller, H (author)
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Robinson, P (author)
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Roos, M (author)
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Oliveira, JL (author)
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(creator_code:org_t)
- Hindawi Limited, 2017
- 2017
- English.
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In: BioMed research international. - : Hindawi Limited. - 2314-6141 .- 2314-6133. ; 2017, s. 8327980-
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Abstract
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- Patient registries are an essential tool to increase current knowledge regarding rare diseases. Understanding these data is a vital step to improve patient treatments and to create the most adequate tools for personalized medicine. However, the growing number of disease-specific patient registries brings also new technical challenges. Usually, these systems are developed as closed data silos, with independent formats and models, lacking comprehensive mechanisms to enable data sharing. To tackle these challenges, we developed a Semantic Web based solution that allows connecting distributed and heterogeneous registries, enabling the federation of knowledge between multiple independent environments. This semantic layer creates a holistic view over a set of anonymised registries, supporting semantic data representation, integrated access, and querying. The implemented system gave us the opportunity to answer challenging questions across disperse rare disease patient registries. The interconnection between those registries using Semantic Web technologies benefits our final solution in a way that we can query single or multiple instances according to our needs. The outcome is a unique semantic layer, connecting miscellaneous registries and delivering a lightweight holistic perspective over the wealth of knowledge stemming from linked rare disease patient registries.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Hälsovetenskap -- Hälso- och sjukvårdsorganisation, hälsopolitik och hälsoekonomi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Health Sciences -- Health Care Service and Management, Health Policy and Services and Health Economy (hsv//eng)
- NATURVETENSKAP -- Data- och informationsvetenskap -- Systemvetenskap, informationssystem och informatik (hsv//swe)
- NATURAL SCIENCES -- Computer and Information Sciences -- Information Systems (hsv//eng)
- NATURVETENSKAP -- Data- och informationsvetenskap -- Programvaruteknik (hsv//swe)
- NATURAL SCIENCES -- Computer and Information Sciences -- Software Engineering (hsv//eng)
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- ref (subject category)
- art (subject category)
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- By the author/editor
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Sernadela, P
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Gonzalez-Castro, ...
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Carta, C
-
van der Horst, E
-
Lopes, P
-
Kaliyaperumal, R
-
show more...
-
Thompson, M
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Thompson, R
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Queralt-Rosinach ...
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Lopez, E
-
Wood, L
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Robertson, A
-
Lamanna, C
-
Gilling, M
-
Orth, M
-
Merino-Martinez, ...
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Posada, M
-
Taruscio, D
-
Lochmuller, H
-
Robinson, P
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Roos, M
-
Oliveira, JL
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Health Sciences
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and Health Care Serv ...
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Computer and Inf ...
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and Information Syst ...
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Computer and Inf ...
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and Software Enginee ...
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BioMed research ...
- By the university
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Karolinska Institutet