+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research

RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research

Journal of General Internal Medicine 29(Suppl. 3): S780

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.

Please choose payment method:

(PDF emailed within 0-6 h: $19.90)

Accession: 055333957

Download citation: RISBibTeXText

PMID: 25029978

DOI: 10.1007/s11606-014-2908-8

Related references

RD-Connect: Data sharing and analysis for rare disease research within the integrated platform and through GA4GH beacon and matchmaker exchange. Neuromuscular Disorders 26: S160-S161, 2016

Down syndrome: national conference on patient registries, research databases, and biobanks. Molecular Genetics and Metabolism 104(1-2): 13-22, 2011

Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer. Biomed Research International 2017: 8327980, 2017

EU Pancreas: an integrated European platform for pancreas cancer research--from basic science to clinical and public health interventions for a rare disease. Public Health Genomics 16(6): 305-312, 2013

Rare disease registries and mutation/variation databases. Human Mutation 32(10): 1073-1074, 2011

The interface of population-based cancer registries and biobanks in etiological and clinical research--current and future perspectives. Acta Oncologica 49(8): 1227-1234, 2010

The challenge for a European network of biobanks for rare diseases taken up by RD-Connect. Pathobiology 81(5-6): 231-236, 2014

Landscape analysis of registries and biobanks: a tool for disease advocacy organizations to enhance translational research systems. Biopreservation and Biobanking 8(2): 115-117, 2010

A model for the European platform for rare disease registries. Public Health Genomics 16(6): 299-304, 2013

Use of clinical databases and central health registries for description of disease courses. Ugeskrift for Laeger 174(17): 1145-1149, 2012

Patient Databases and Clinical Registries in Facial Plastic Surgery Research-Looking at Outcomes Data on a Broader Scale. JAMA Facial Plastic Surgery 18(3): 220-221, 2016

Biobanks and registries for HSCT research: potential for future individualized medicine. International Journal of Immunogenetics 33(3): 153-154, 2006

Shared Bioinformatics Databases within the Unipro UGENE Platform. Journal of Integrative Bioinformatics 12(1): 24-34, 2017

Shared bioinformatics databases within the Unipro UGENE platform. Journal of Integrative Bioinformatics 12(1): 257, 2015

Connecting communities to health research: development of the Project CONNECT minority research registry. Contemporary Clinical Trials 35(1): 1-7, 2013