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Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.

Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.

Authors :
Sernadela, Pedro
González-Castro, Lorena
Carta, Claudio
van der Horst, Eelke
Lopes, Pedro
Kaliyaperumal, Rajaram
Thompson, Mark
Thompson, Rachel
Queralt-Rosinach, Núria
Lopez, Estrella
Wood, Libby
Robertson, Agata
Lamanna, Claudia
Gilling, Mette
Orth, Michael
Merino-Martinez, Roxana
Posada, Manuel
Taruscio, Domenica
Lochmüller, Hanns
Robinson, Peter
Source :
BioMed Research International; 10/29/2017, Vol. 2017, p1-13, 13p
Publication Year :
2017

Abstract

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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
23146133
Volume :
2017
Database :
Complementary Index
Journal :
BioMed Research International
Publication Type :
Academic Journal
Accession number :
125938050
Full Text :
https://doi.org/10.1155/2017/8327980