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't Hoen, Peter A. C.

Arts, Derk L.

Cornet, Ronald

dos Santos Vieira, Bruna

Groenen, Karlijn H. J.

Jacobsen, Annika

Kaliyaperumal, Rajaram

Kersloot, Martijn G.

Kool, Leo Schultze

Roos, Marco

van Enckevort, Esther

Orphanet Journal of Rare Diseases

English

Background Patient data registries that are FAIR-Findable, Accessible, Interoperable, and Reusable for humans and computers-facilitate research across multiple resources. This is particularly relevant to rare diseases, where data often are scarce and scattered. Specific research questions can be asked across FAIR rare disease registries and other FAIR resources without physically combining the data. Further, FAIR implies well-defined, transparent access conditions, which supports making sensitive data as open as possible and as closed as necessary. Results We successfully developed and implemented a process of making a rare disease registry for vascular anomalies FAIR from its conception-de novo. Here, we describe the five phases of this process in detail: (i) pre-FAIRification, (ii) facilitating FAIRification, (iii) data collection, (iv) generating FAIR data in real-time, and (v) using FAIR data. This includes the creation of an electronic case report form and a semantic data model of the elements to be collected (in this case: the "Set of Common Data Elements for Rare Disease Registration" released by the European Commission), and the technical implementation of automatic, real-time data FAIRification in an Electronic Data Capture system. Further, we describe how we contribute to the four facets of FAIR, and how our FAIRification process can be reused by other registries. Conclusions In conclusion, a detailed de novo FAIRification process of a registry for vascular anomalies is described. To a large extent, the process may be reused by other rare disease registries, and we envision this work to be a substantial contribution to an ecosystem of FAIR rare disease resources.</p

ARTS repository - University of Groningen

The de novo FAIRification process of a registry for vascular anomalies

Background: Patient data registries that are FAIR—Findable, Accessible, Interoperable, and Reusable for humans and computers—facilitate research across multiple resources. This is particularly relevant to rare diseases, where data often are scarce and scattered. Specific research questions can be asked across FAIR rare disease registries and other FAIR resources without physically combining the data. Further, FAIR implies well-defined, transparent access conditions, which supports making sensitive data as open as possible and as closed as necessary. Results: We successfully developed and implemented a process of making a rare disease registry for vascular anomalies FAIR from its conception—de novo. Here, we describe the five phases of this process in detail: (i) pre-FAIRification, (ii) facilitating FAIRification, (iii) data collection, (iv) generating FAIR data in real-time, and (v) using FAIR data. This includes the creation of an electronic case report form and a semantic data model of the elements to be collected (in this case: the “Set of Common Data Elements for Rare Disease Registration” released by the European Commission), and the technical implementation of automatic, real-time data FAIRification in an Electronic Data Capture system. Further, we describe how we contribute to the four facets of FAIR, and how our FAIRification process can be reused by other registries. Conclusions: In conclusion, a detailed de novo FAIRification process of a registry for vascular anomalies is described. To a large extent, the process may be reused by other rare disease registries, and we envision this work to be a substantial contribution to an ecosystem of FAIR rare disease resources

‘t Hoen, Peter A. C.

NARCIS 

Dissertations of the University of Groningen

University of Groningen

Background Patient data registries that are FAIR-Findable, Accessible, Interoperable, and Reusable for humans and computers-facilitate research across multiple resources. This is particularly relevant to rare diseases, where data often are scarce and scattered. Specific research questions can be asked across FAIR rare disease registries and other FAIR resources without physically combining the data. Further, FAIR implies well-defined, transparent access conditions, which supports making sensitive data as open as possible and as closed as necessary. Results We successfully developed and implemented a process of making a rare disease registry for vascular anomalies FAIR from its conception-de novo. Here, we describe the five phases of this process in detail: (i) pre-FAIRification, (ii) facilitating FAIRification, (iii) data collection, (iv) generating FAIR data in real-time, and (v) using FAIR data. This includes the creation of an electronic case report form and a semantic data model of the elements to be collected (in this case: the "Set of Common Data Elements for Rare Disease Registration" released by the European Commission), and the technical implementation of automatic, real-time data FAIRification in an Electronic Data Capture system. Further, we describe how we contribute to the four facets of FAIR, and how our FAIRification process can be reused by other registries. Conclusions In conclusion, a detailed de novo FAIRification process of a registry for vascular anomalies is described. To a large extent, the process may be reused by other rare disease registries, and we envision this work to be a substantial contribution to an ecosystem of FAIR rare disease resources

Proceedings - University of Groningen

Groenen, K.H.J.

Jacobsen, A.

Kersloot, M.

Santos Vieira, Bruna dos

Enckevort, Esther van

Kaliyaperumal, R.

Hoen, P.A.C. 't

Roos, M.

Schultze Kool, L.J.

Radboud Repository

Abstract Background Patient data registries that are FAIR—Findable, Accessible, Interoperable, and Reusable for humans and computers—facilitate research across multiple resources. This is particularly relevant to rare diseases, where data often are scarce and scattered. Specific research questions can be asked across FAIR rare disease registries and other FAIR resources without physically combining the data. Further, FAIR implies well-defined, transparent access conditions, which supports making sensitive data as open as possible and as closed as necessary. Results We successfully developed and implemented a process of making a rare disease registry for vascular anomalies FAIR from its conception—de novo. Here, we describe the five phases of this process in detail: (i) pre-FAIRification, (ii) facilitating FAIRification, (iii) data collection, (iv) generating FAIR data in real-time, and (v) using FAIR data. This includes the creation of an electronic case report form and a semantic data model of the elements to be collected (in this case: the “Set of Common Data Elements for Rare Disease Registration” released by the European Commission), and the technical implementation of automatic, real-time data FAIRification in an Electronic Data Capture system. Further, we describe how we contribute to the four facets of FAIR, and how our FAIRification process can be reused by other registries. Conclusions In conclusion, a detailed de novo FAIRification process of a registry for vascular anomalies is described. To a large extent, the process may be reused by other rare disease registries, and we envision this work to be a substantial contribution to an ecosystem of FAIR rare disease resources

Karlijn H. J. Groenen

Annika Jacobsen

Martijn G. Kersloot

Bruna dos Santos Vieira

Esther van Enckevort

Rajaram Kaliyaperumal

Derk L. Arts

Peter A. C. ‘t Hoen

Ronald Cornet

Marco Roos

Leo Schultze Kool

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The de novo FAIRification process of a registry for vascular anomalies

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ARTS repository - University of Groningen

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Dissertations of the University of Groningen

University of Groningen

NARCIS

University of Groningen

Proceedings - University of Groningen

Dissertations of the University of Groningen

Radboud Repository

Directory of Open Access Journals