RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research - Aix-Marseille Université Access content directly
Journal Articles Journal of General Internal Medicine Year : 2014

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

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.

Dates and versions

hal-01681779 , version 1 (11-01-2018)

Identifiers

Cite

Rachel Thompson, Louise Johnston, Domenica Taruscio, Lucia Monaco, Christophe Béroud, et al.. RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research. Journal of General Internal Medicine, 2014, 29 (S3), pp.780 - 787. ⟨10.1007/s11606-014-2908-8⟩. ⟨hal-01681779⟩
72 View
0 Download

Altmetric

Share

Gmail Facebook X LinkedIn More