Research output per year
Research output per year
Personal profile
Research interests
My research focuses on facilitating interoperability of rare disease data through Semantic Web technologies, including but not limited to the following:
- Quality assessment on rare disease data in Resource Description Framework (RDF);
- Data transformation among various health data standards;
- Standardization of data dictionaries in the field of rare diseases;
I obtained a Master of Science in Medical Informatics from University of Amsterdam (the Netherlands) in 2019 and a Bachelor of Science in Pharmacy from Zhejiang University (China) in 2015.
I joined the European Joint Programme on Rare Diseases on October 2019 and have been working as a FAIR data steward supporting European rare disease registries in making their data Findable, Accessible, Interoperable, and Reusable (FAIR) for both humans and machines since July 2020. In addition, I have participated in the modelling of the Semantic Model for the Common Data Elements in rare diseases and its mappings to the Clinical Data Interchange Standards Consortium (CDISC) standards.
Specialisation
Medical Informatics; Semantic Web; FAIR Data; Rare Disease Data; Ontology; Stewardship
Education/Academic qualification
Master, University of Amsterdam
1 Feb 2017 → 1 Feb 2019
Award Date: 1 Feb 2019
Bachelor, Zhejiang University
1 Sep 2011 → 1 Jul 2015
Award Date: 1 Jul 2015
Keywords
- ZA4450 Databases
- Q Science (General)
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data
Kaliyaperumal, R., Wilkinson, M. D., Moreno, P. A., Benis, N., Cornet, R., Dos Santos Vieira, B., Dumontier, M., Bernabé, C. S. H., Jacobsen, A., le Cornec, C. M. A., Godoy, M. P., Queralt-Rosinach, N. R., Schultze Kool, L. J., Swertz, M. A., van Damme, P., van der Velde, K. J., Lalout, N., Zhang, S. & Roos, M., Dec 2022, In: Journal of Biomedical Semantics. 13, 1, p. 9 9.Research output: Contribution to journal › Article* › Academic › peer-review
Open Access -
Assessing Resolvability and Consistency in OBO Foundry Ontologies: Pilot Study
Zhang, S., Benis, N. & Cornet, R., 18 Nov 2021, Applying the FAIR Principles to Accelerate Health Research in Europe in the Post COVID-19 Era - Proceedings of the 2021 EFMI Special Topic Conference. Delgado, J., Benis, A., de Toledo, P., Gallos, P., Giacomini, M., Martinez-Garcia, A. & Salvi, D. (eds.). IOS Press BV, Vol. 287. p. 104-108 5 p. (Studies in Health Technology and Informatics; vol. 287).Research output: Chapter in Book/Report/Conference proceeding › Conference contribution* › Academic › peer-review
Open Access