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RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research
Vise andre og tillknytning
2014 (engelsk)Inngår i: Journal of general internal medicine, ISSN 0884-8734, E-ISSN 1525-1497, Vol. 29, nr S3, s. S780-S787Artikkel, forskningsoversikt (Fagfellevurdert) Published
Abstract [en]

Research into rare diseases is typically fragmented by data type and disease. Individual efforts often have poor interoperability and do not systematically connect data across clinical phenotype, genomic data, biomaterial availability, and research/trial data sets. Such data must be linked at both an individual-patient and whole-cohort level to enable researchers to gain a complete view of their disease and patient population of interest. Data access and authorization procedures are required to allow researchers in multiple institutions to securely compare results and gain new insights. Funded by the European Union's Seventh Framework Programme under the International Rare Diseases Research Consortium (IRDiRC), RD-Connect is a global infrastructure project initiated in November 2012 that links genomic data with registries, biobanks, and clinical bioinformatics tools to produce a central research resource for rare diseases.

sted, utgiver, år, opplag, sider
2014. Vol. 29, nr S3, s. S780-S787
Emneord [en]
genetics, medical informatics, databases, clinical trials, Electronic health records
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Identifikatorer
URN: urn:nbn:se:uu:diva-240878DOI: 10.1007/s11606-014-2908-8ISI: 000345411700011PubMedID: 25029978OAI: oai:DiVA.org:uu-240878DiVA, id: diva2:777208
Tilgjengelig fra: 2015-01-08 Laget: 2015-01-08 Sist oppdatert: 2017-12-05bibliografisk kontrollert

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