RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-07-17

AUTHORS

Rachel Thompson, Louise Johnston, Domenica Taruscio, Lucia Monaco, Christophe Béroud, Ivo G. Gut, Mats G. Hansson, Peter-Bram A. ’t Hoen, George P. Patrinos, Hugh Dawkins, Monica Ensini, Kurt Zatloukal, David Koubi, Emma Heslop, Justin E. Paschall, Manuel Posada, Peter N. Robinson, Kate Bushby, Hanns Lochmüller

ABSTRACT

ABSTRACTResearch 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. More... »

PAGES

780-787

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s11606-014-2908-8

DOI

http://dx.doi.org/10.1007/s11606-014-2908-8

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1032069833

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25029978


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