Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Thompson, R; Johnston, L; Taruscio, D; Monaco, L; Béroud, C; Gut, IG; Hansson, MG; 't Hoen, PB; Patrinos, GP; Dawkins, H; Ensini, M; Zatloukal, K; Koubi, D; Heslop, E; Paschall, JE; Posada, M; Robinson, PN; Bushby, K; Lochmüller, H.
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.
J Gen Intern Med. 2014; 29 Suppl 3(8):S780-S787
Doi: 10.1007/s11606-014-2908-8
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- Co-Autor*innen der Med Uni Graz
- Zatloukal Kurt
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- Abstract:
- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Biological Specimen Banks -
- Computational Biology -
- Databases, Factual -
- Health Information Exchange -
- Humans -
- Rare Diseases -
- Registries -
- Find related publications in this database (Keywords)
- genetics
- medical informatics
- databases
- clinical trials
- Electronic health records