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

Lookup NU author(s): Rachel ThompsonORCiD, Dr Louise Johnston, Dr Monica Ensini, Emma Heslop, Emerita Professor Katherine Bushby, Professor Hanns Lochmuller


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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.

Publication metadata

Author(s): Thompson R, Johnston L, Taruscio D, Monaco L, Beroud C, Gut IG, Hansson MG, 't Hoen PBA, Patrinos GP, Dawkins H, Ensini M, Zatloukal K, Koubi D, Heslop E, Paschall JE, Posada M, Robinson PN, Bushby K, Lochmuller H

Publication type: Review

Publication status: Published

Journal: Journal of General Internal Medicine

Year: 2014

Volume: 29

Issue: 3

Pages: 780-787

Print publication date: 01/08/2014

Online publication date: 17/07/2014

ISSN (print): 0884-8734

ISSN (electronic): 1525-1497

Publisher: SPRINGER


DOI: 10.1007/s11606-014-2908-8

PubMed id: 25029978