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WFRF:(Lochmuller H.)
 

Sökning: WFRF:(Lochmuller H.) > Linked Registries: ...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00003935naa a2200577 4500
001oai:prod.swepub.kib.ki.se:136913996
003SwePub
008240913s2017 | |||||||||||000 ||eng|
0247 a http://kipublications.ki.se/Default.aspx?queryparsed=id:1369139962 URI
0247 a https://doi.org/10.1155/2017/83279802 DOI
040 a (SwePub)ki
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Sernadela, P4 aut
2451 0a Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer
264 1b Hindawi Limited,c 2017
520 a 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.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Hälsovetenskapx Hälso- och sjukvårdsorganisation, hälsopolitik och hälsoekonomi0 (SwePub)303012 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Health Sciencesx Health Care Service and Management, Health Policy and Services and Health Economy0 (SwePub)303012 hsv//eng
650 7a NATURVETENSKAPx Data- och informationsvetenskapx Systemvetenskap, informationssystem och informatik0 (SwePub)102022 hsv//swe
650 7a NATURAL SCIENCESx Computer and Information Sciencesx Information Systems0 (SwePub)102022 hsv//eng
650 7a NATURVETENSKAPx Data- och informationsvetenskapx Programvaruteknik0 (SwePub)102052 hsv//swe
650 7a NATURAL SCIENCESx Computer and Information Sciencesx Software Engineering0 (SwePub)102052 hsv//eng
7001 a Gonzalez-Castro, L4 aut
7001 a Carta, C4 aut
7001 a van der Horst, E4 aut
7001 a Lopes, P4 aut
7001 a Kaliyaperumal, R4 aut
7001 a Thompson, M4 aut
7001 a Thompson, R4 aut
7001 a Queralt-Rosinach, N4 aut
7001 a Lopez, E4 aut
7001 a Wood, L4 aut
7001 a Robertson, A4 aut
7001 a Lamanna, C4 aut
7001 a Gilling, M4 aut
7001 a Orth, M4 aut
7001 a Merino-Martinez, Ru Karolinska Institutet4 aut
7001 a Posada, M4 aut
7001 a Taruscio, D4 aut
7001 a Lochmuller, H4 aut
7001 a Robinson, P4 aut
7001 a Roos, M4 aut
7001 a Oliveira, JL4 aut
7102 a Karolinska Institutet4 org
7730 t BioMed research internationald : Hindawi Limitedg 2017, s. 8327980-q 2017<8327980-x 2314-6141x 2314-6133
8564 u http://downloads.hindawi.com/journals/bmri/2017/8327980.pdf
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:136913996
8564 8u https://doi.org/10.1155/2017/8327980

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