A knowledge federation architecture for rare disease patient registries and biobanks

Pedro Sernadela; Pedro Lopes; José Luís Oliveira

doi:10.20897/lectito.201615

A knowledge federation architecture for rare disease patient registries and biobanks

Pedro Sernadela ¹ ^* , Pedro Lopes ¹, José Luís Oliveira ¹

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¹ University of Aveiro, PORTUGAL
^* Corresponding Author

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Research Article

Journal of Information Systems Engineering and Management, 2016 - Volume 1 Issue 2, pp. 83-90
https://doi.org/10.20897/lectito.201615

Published Online: 22 Mar 2016

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APA 6th edition

In-text citation: (Sernadela et al., 2016)
Reference: Sernadela, P., Lopes, P., & Oliveira, J. L. (2016). A knowledge federation architecture for rare disease patient registries and biobanks. Journal of Information Systems Engineering and Management, 1(2), 83-90. https://doi.org/10.20897/lectito.201615

Vancouver

In-text citation: (1), (2), (3), etc.
Reference: Sernadela P, Lopes P, Oliveira JL. A knowledge federation architecture for rare disease patient registries and biobanks. J INFORM SYSTEMS ENG. 2016;1(2):83-90. https://doi.org/10.20897/lectito.201615

AMA 10th edition

In-text citation: (1), (2), (3), etc.
Reference: Sernadela P, Lopes P, Oliveira JL. A knowledge federation architecture for rare disease patient registries and biobanks. J INFORM SYSTEMS ENG. 2016;1(2), 83-90. https://doi.org/10.20897/lectito.201615

Chicago

In-text citation: (Sernadela et al., 2016)
Reference: Sernadela, Pedro, Pedro Lopes, and José Luís Oliveira. "A knowledge federation architecture for rare disease patient registries and biobanks". Journal of Information Systems Engineering and Management 2016 1 no. 2 (2016): 83-90. https://doi.org/10.20897/lectito.201615

Harvard

In-text citation: (Sernadela et al., 2016)
Reference: Sernadela, P., Lopes, P., and Oliveira, J. L. (2016). A knowledge federation architecture for rare disease patient registries and biobanks. Journal of Information Systems Engineering and Management, 1(2), pp. 83-90. https://doi.org/10.20897/lectito.201615

MLA

In-text citation: (Sernadela et al., 2016)
Reference: Sernadela, Pedro et al. "A knowledge federation architecture for rare disease patient registries and biobanks". Journal of Information Systems Engineering and Management, vol. 1, no. 2, 2016, pp. 83-90. https://doi.org/10.20897/lectito.201615

ABSTRACT

Patient registries are a source of standardized electronic patient information. These records are vital to identify and coordinate a proper cohort, especially for the rare disease domain. Likeness, biobanks are currently an essential instrument for biomedical research, since they provide the very first piece of the biomedical research cycle, i.e. the biological samples. However, connection between rare diseases, patient registries and biobanks has been very limited, due to the lack of common data models and procedures. As they were built with security and privacy in mind, available tools lack comprehensive data access mechanisms, thus making data sharing a complex process. To tackle these challenges, we introduce a semantic web-based architecture to connect distributed and heterogeneous registries and samples. The outcome is a unique knowledge layer, connecting miscellaneous datasets and enabling state-of-the-art semantic data sharing mechanisms.

KEYWORDS

rare diseases data integration interoperability semantic web patient registries biobanks

REFERENCES

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.