Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data

R. Kaliyaperumal; M.D. Wilkinson; P.A. Moreno; N. Benis; R. Cornet; B.D. Vieira; M. Dumontier; C.H. Bernabe; A. Jacobsen; C.M.A. Le Cornec; M.P. Godoy; N. Queralt-Rosinach; L.J.S. Kool; M.A. Swertz; P. van Damme; K.J. van der Velde; N. Lalout; S.X. Zhang; M. Roos

doi:10.1186/s13326-022-00264-6

Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data

R. Kaliyaperumal, M.D. Wilkinson^*, P.A. Moreno, N. Benis, R. Cornet, B.D. Vieira, M. Dumontier, C.H. Bernabe, A. Jacobsen, C.M.A. Le Cornec, M.P. Godoy, N. Queralt-Rosinach, L.J.S. Kool, M.A. Swertz, P. van Damme, K.J. van der Velde, N. Lalout, S.X. Zhang, M. Roos

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Article number	9
Number of pages	16
Journal	Journal of biomedical semantics
Volume	13
Issue number	1
DOIs	https://doi.org/10.1186/s13326-022-00264-6
Publication status	Published - 15 Mar 2022

Keywords

FAIR data
Rare disease
Interoperability
Linked data
Data transformation
Semantic web
Ontologies
Common data elements
Disease registries

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Cite this

Kaliyaperumal, R., Wilkinson, M. D., Moreno, P. A., Benis, N., Cornet, R., Vieira, B. D., Dumontier, M., Bernabe, C. H., Jacobsen, A., Le Cornec, C. M. A., Godoy, M. P., Queralt-Rosinach, N., Kool, L. J. S., Swertz, M. A., van Damme, P., van der Velde, K. J., Lalout, N., Zhang, S. X., & Roos, M. (2022). Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data. Journal of biomedical semantics, 13(1), [9]. https://doi.org/10.1186/s13326-022-00264-6

Kaliyaperumal, R. ; Wilkinson, M.D. ; Moreno, P.A. ; Benis, N. ; Cornet, R. ; Vieira, B.D. ; Dumontier, M. ; Bernabe, C.H. ; Jacobsen, A. ; Le Cornec, C.M.A. ; Godoy, M.P. ; Queralt-Rosinach, N. ; Kool, L.J.S. ; Swertz, M.A. ; van Damme, P. ; van der Velde, K.J. ; Lalout, N. ; Zhang, S.X. ; Roos, M. / Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data. In: Journal of biomedical semantics. 2022 ; Vol. 13, No. 1.

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keywords = "FAIR data, Rare disease, Interoperability, Linked data, Data transformation, Semantic web, Ontologies, Common data elements, Disease registries",

author = "R. Kaliyaperumal and M.D. Wilkinson and P.A. Moreno and N. Benis and R. Cornet and B.D. Vieira and M. Dumontier and C.H. Bernabe and A. Jacobsen and {Le Cornec}, C.M.A. and M.P. Godoy and N. Queralt-Rosinach and L.J.S. Kool and M.A. Swertz and {van Damme}, P. and {van der Velde}, K.J. and N. Lalout and S.X. Zhang and M. Roos",

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Kaliyaperumal, R, Wilkinson, MD, Moreno, PA, Benis, N, Cornet, R, Vieira, BD, Dumontier, M, Bernabe, CH, Jacobsen, A, Le Cornec, CMA, Godoy, MP, Queralt-Rosinach, N, Kool, LJS, Swertz, MA, van Damme, P, van der Velde, KJ, Lalout, N, Zhang, SX & Roos, M 2022, 'Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data', Journal of biomedical semantics, vol. 13, no. 1, 9. https://doi.org/10.1186/s13326-022-00264-6

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.; Vieira, B.D.; Dumontier, M.; Bernabe, C.H.; Jacobsen, A.; Le Cornec, C.M.A.; Godoy, M.P.; Queralt-Rosinach, N.; Kool, L.J.S.; Swertz, M.A.; van Damme, P.; van der Velde, K.J.; Lalout, N.; Zhang, S.X.; Roos, M.

In: Journal of biomedical semantics, Vol. 13, No. 1, 9, 15.03.2022.

Research output: Contribution to journal › Article › Academic › peer-review

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AU - Kaliyaperumal, R.

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AU - Moreno, P.A.

AU - Benis, N.

AU - Cornet, R.

AU - Vieira, B.D.

AU - Dumontier, M.

AU - Bernabe, C.H.

AU - Jacobsen, A.

AU - Le Cornec, C.M.A.

AU - Godoy, M.P.

AU - Queralt-Rosinach, N.

AU - Kool, L.J.S.

AU - Swertz, M.A.

AU - van Damme, P.

AU - van der Velde, K.J.

AU - Lalout, N.

AU - Zhang, S.X.

AU - Roos, M.

PY - 2022/3/15

Y1 - 2022/3/15

KW - FAIR data

KW - Rare disease

KW - Interoperability

KW - Linked data

KW - Data transformation

KW - Semantic web

KW - Ontologies

KW - Common data elements

KW - Disease registries

U2 - 10.1186/s13326-022-00264-6

DO - 10.1186/s13326-022-00264-6

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