TY  - JOUR
AU  - Schaaf, Jannik
AU  - Kadioglu, Dennis
AU  - Goebel, Jens
AU  - Behrendt, Christian-Alexander
AU  - Roos, Marco
AU  - van Enckevort, David
AU  - Ückert, Frank
AU  - Sadiku, Fatlume
AU  - Wagner, Thomas O F
AU  - Storf, Holger
TI  - OSSE Goes FAIR - Implementation of the FAIR Data Principles for an Open-Source Registry for Rare Diseases.
JO  - Studies in health technology and informatics
VL  - 253
SN  - 0926-9630
CY  - Amsterdam
PB  - IOS Press
M1  - DKFZ-2018-02350
SP  - 209-213
PY  - 2018
AB  - The Open Source Registry for Rare Diseases (OSSE) provides a concept and a software for the management of registries for patients with rare diseases. A disease is defined as rare if less than 5 out of 10,000 people are affected. Up to date, approximately 6,000 rare diseases are catalogued. Networking and data exchange for research purposes remains challenging due to the paucity of interoperability and due to the fact that small data stocks are stored locally. The so called 'Findable, Accessible, Interoperable, Reusable' (FAIR) Data Principles have been developed to improve research in the field of rare diseases. Subsequently, the OSSE architecture was adapted to implement the FAIR Data Principles. Therefore, the so-called FAIR Data Point was integrated into OSSE to provide a description of metadata in a FAIR manner. OSSE relies on the existing metadata repository (MDR), which is used in to define data elements in the system. This is an important step towards unified documentation across multiple registries. The integration and use of new procedures to improve interoperability plays an important role in the context of registries for rare diseases.
LB  - PUB:(DE-HGF)16
C6  - pmid:30147075
DO  - DOI:DOI:10.3233/978-1-61499-896-9-209
UR  - https://inrepo02.dkfz.de/record/142120
ER  -