Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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SDG 3 Good Health and Well-being -
SDG 9 Industry, Innovation, and Infrastructure
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- 1 Similar Profiles
Collaborations and top research areas from the last five years
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An exploratory study combining Virtual Reality and Semantic Web for life science research using Graph2VR
Kellmann, A. J., van den Hoek, S., Postema, M., Maassen, W. T. K., Hijmans, B. S., van der Geest, M. A., van der Velde, K. J., van Enckevort, E. J. & Swertz, M. A., 2025, In: Database. 2025, 20 p., baaf008.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile20 Downloads (Pure) -
Molgenis Vip: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods
Maassen, W. T. K., Johansson, L. F., Charbon, B., Hendriksen, D., van den Hoek, S., Slofstra, M. K., Mulder, R., Meems-Veldhuis, M. T., Sietsma, R., Lemmink, H. H., van Diemen, C. C., van Gijn, M. E., Swertz, M. A. & van der Velde, K. J., Jun-2025, In: NAR genomics and bioinformatics. 7, 2, 17 p., lqaf087.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)36 Downloads (Pure) -
An interconnected data infrastructure to support large-scale rare disease research
SOLVE-RD Consortium, Johansson, L. F., Laurie, S., Spalding, D., Gibson, S., Ruvolo, D., Thomas, C., Piscia, D., de Andrade, F., Been, G., Bijlsma, M., Brunner, H., Cimerman, S., Dizjikan, F. Y., Ellwanger, K., Fernandez, M., Freeberg, M., van de Geijn, G.-J., Kanninga, R. & Maddi, V. & 17 others, , 20-Sept-2024, In: Gigascience. 13, 14 p., giae058.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile6 Citations (Scopus)102 Downloads (Pure) -
FAIR Data Cube, a FAIR data infrastructure for integrated multi-omics data analysis
Liao, X., Ederveen, T. A., Niehues, A., de Visser, C., Huang, J., Badmus, F., Doornbos, C., Orlova, Y., Kulkarni, P., van der Velde, K. J., Swertz, M. A., Brandt, M., van Gool, A. J. & ’t Hoen, P. A. C., Dec-2024, In: Journal of Biomedical Semantics. 15, 13 p., 20.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Citations (Scopus)66 Downloads (Pure) -
A Resource for Guiding Data Stewards to Make European Rare Disease Patient Registries FAIR
Van Damme, P., Moreno, P. A., Bernabé, C. H., Ballesteros, A. C., Le Cornec, C. M. A., Vieira, B. D. S., van der Velde, K. J., Zhang, S., Carta, C., Cornet, R., t Hoen, P. A. C., Jacobsen, A., Swertz, M. A., Roos, M. & Benis, N., 5-Jun-2023, In: Data Science Journal. 22, 12 p., 12.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile4 Citations (Scopus)144 Downloads (Pure)
Activities
- 1 Academic presentation
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BioSB 2020
Johansson, L. (Speaker), Vries, van der, G. (Contributor), Neerincx, P. (Contributor), Andrade, de, F. (Contributor), Roelofs-Prins, D. (Contributor), Kanninga, R. (Contributor), Bijlsma, M. (Contributor), Velde, van der, J. (Contributor), Hendriksen, D. (Contributor), Rijpkema, E. (Contributor), Nap, W. (Contributor), Zilverberg, H.-J. (Contributor), Dijkstra, F. (Contributor), Uitterdijk, J. J. (Contributor), Geijn, van de, G.-J. (Contributor), Laurie, S. (Contributor), Piscia, D. (Contributor), Kerry, G. (Contributor), Mohan, A. (Contributor), Spalding, D. (Contributor), Beltran, S. (Contributor), Brookes, A. (Contributor) & Swertz, M. (Contributor)
27-Oct-2020 → 28-Oct-2020Activity: Talk and presentation › Academic presentation › Academic
File
Datasets
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Additional file 3: Table S3. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
van der Velde, J. (Contributor), de Boer, E. (Contributor), van Diemen, C. (Contributor), Raddatz, B. (Contributor), Abbott, K. (Contributor), Knopperts, A. (Contributor), Franke, L. (Contributor), Sijmons, R. (Contributor), de Koning, T. J. (Contributor), Wijmenga, C. (Contributor), Sinke, R. (Contributor) & Swertz, M. (Contributor), University of Groningen, 16-Jan-2017
DOI: 10.6084/m9.figshare.c.3666643_d3.v1
Dataset
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Additional file 4: Table S4. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
van Diemen, C. (Contributor), Wijmenga, C. (Contributor), Franke, L. (Contributor), van der Velde, J. (Contributor), Sinke, R. (Contributor), Swertz, M. (Contributor), Raddatz, B. (Contributor), de Boer, E. (Contributor), Knopperts, A. (Contributor), de Koning, T. J. (Contributor), Sijmons, R. (Contributor) & Abbott, K. (Contributor), University of Groningen, 16-Jan-2017
DOI: 10.6084/m9.figshare.c.3666643_d1.v1
Dataset
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Additional file 2 of Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries
dos Santos Vieira, B. (Creator), Bernabé, C. H. (Creator), Zhang, S. (Creator), Abaza, H. (Creator), Benis, N. (Creator), Cámara, A. (Creator), Cornet, R. (Creator), Le Cornec, C. M. A. (Creator), ’t Hoen, P. A. C. (Creator), Schaefer, F. (Creator), van der Velde, J. (Creator), Swertz, M. A. (Creator), Wilkinson, M. D. (Creator), Jacobsen, A. (Creator), Roos, M. (Creator), Schaefer, F. (Creator) & Swertz, M. A. (Creator), figshare, 14-Dec-2023
DOI: 10.6084/m9.figshare.22609633, https://springernature.figshare.com/articles/dataset/Additional_file_2_of_Towards_FAIRification_of_sensitive_and_fragmented_rare_disease_patient_data_challenges_and_solutions_in_European_reference_network_registries/22609633
Dataset
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Additional file 1: of The 1000IBD project: multi-omics data of 1000 inflammatory bowel disease patients; data release 1
Imhann, F. (Contributor), van der Velde, J. (Contributor), Barbieri, R. (Contributor), Alberts, R. (Contributor), Voskuil, M. (Contributor), Vich Vila, A. (Contributor), Collij, V. (Contributor), Spekhorst, L. (Contributor), van der Sloot, K. (Contributor), Peters, V. (Contributor), van Dullemen, H. (Contributor), Visschedijk, M. (Contributor), Festen, N. (Contributor), Swertz, M. (Contributor), Dijkstra, G. (Contributor) & Weersma, R. (Contributor), University of Groningen, 8-Jan-2019
DOI: 10.6084/m9.figshare.7563995.v1
Dataset
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Additional file 2: Table S2. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
de Koning, T. J. (Contributor), Sijmons, R. (Contributor), Raddatz, B. (Contributor), Swertz, M. (Contributor), de Boer, E. (Contributor), Wijmenga, C. (Contributor), Sinke, R. (Contributor), van Diemen, C. (Contributor), Knopperts, A. (Contributor), Franke, L. (Contributor), Abbott, K. (Contributor) & van der Velde, J. (Contributor), University of Groningen, 16-Jan-2017
DOI: 10.6084/m9.figshare.c.3666643_d2.v1
Dataset
Press/Media
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Meld je nu aan voor de workshop over FAIR data stewardship en datamanagement
31/10/2022
1 item of Media coverage
Press/Media: Public Engagement Activities › Popular