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@ARTICLE{Schaaf:142120,
author = {J. Schaaf and D. Kadioglu and J. Goebel and C.-A. Behrendt
and M. Roos and D. van Enckevort and F. Ückert$^*$ and F.
Sadiku$^*$ and T. O. F. Wagner and H. Storf},
title = {{OSSE} {G}oes {FAIR} - {I}mplementation of the {FAIR}
{D}ata {P}rinciples for an {O}pen-{S}ource {R}egistry for
{R}are {D}iseases.},
journal = {Studies in health technology and informatics},
volume = {253},
issn = {0926-9630},
address = {Amsterdam},
publisher = {IOS Press},
reportid = {DKFZ-2018-02350},
pages = {209-213},
year = {2018},
abstract = {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.},
cin = {G230},
ddc = {300},
cid = {I:(DE-He78)G230-20160331},
pnm = {317 - Translational cancer research (POF3-317)},
pid = {G:(DE-HGF)POF3-317},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:30147075},
doi = {DOI:10.3233/978-1-61499-896-9-209},
url = {https://inrepo02.dkfz.de/record/142120},
}