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

Thompson, Rachel; Johnston, Louise; Taruscio, Domenica; Monaco, Lucía; Béroud, Christophe; Gut, Marta; Hansson, Mats; Ac 't Hoen, Peter-Bram; P. Patrinos, George; Dawkins, Hugh; Ensini, Monica; Zatloukal, Kurt; Koubi, David; Heslop, Emma; Paschall, Justin; Posada de la Paz, Manuel; N. Robinson, Peter; Bushby, Kate; Lochmüller, Hanns

doi:10.1007/s11606-014-2908-8

Public

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

Published in Journal of General Internal Medicine • Jul 16, 2014

Authors:

Rachel Thompson

Louise Johnston

Domenica Taruscio

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 a...

Subject

Biobank

Medicine

Interoperability

Research Assistant

AI chat, annotations, notes & similar papers

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!