uu.seUppsala University Publications
Change search
ReferencesLink to record
Permanent link

Direct link
RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research
Show others and affiliations
2014 (English)In: Journal of general internal medicine, ISSN 0884-8734, E-ISSN 1525-1497, Vol. 29, S780-S787 p.Article, review/survey (Refereed) 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.

Place, publisher, year, edition, pages
2014. Vol. 29, S780-S787 p.
Keyword [en]
genetics, medical informatics, databases, clinical trials, Electronic health records
National Category
Medical Ethics
URN: urn:nbn:se:uu:diva-240841DOI: 10.1007/s11606-014-2908-8ISI: 000345411700011PubMedID: 25029978OAI: oai:DiVA.org:uu-240841DiVA: diva2:777206
Available from: 2015-01-08 Created: 2015-01-08 Last updated: 2015-01-08Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Hansson, Mats G.
By organisation
Centre for Research Ethics and Bioethics
In the same journal
Journal of general internal medicine
Medical Ethics

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 169 hits
ReferencesLink to record
Permanent link

Direct link