Ontology highlight
ABSTRACT:
SUBMITTER: Thompson R
PROVIDER: S-EPMC4124112 | biostudies-other | 2014 Aug
REPOSITORIES: biostudies-other
Thompson Rachel R Johnston Louise L Taruscio Domenica D Monaco Lucia L Béroud Christophe C Gut Ivo G IG Hansson Mats G MG 't Hoen Peter-Bram A PB Patrinos George P GP Dawkins Hugh H Ensini Monica M Zatloukal Kurt K Koubi David D Heslop Emma E Paschall Justin E JE Posada Manuel M Robinson Peter N PN Bushby Kate K Lochmüller Hanns H
Journal of general internal medicine 20140801
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 ...[more]