Onderzoeksoutput per jaar
Onderzoeksoutput per jaar
Samenwerkingen en hoofdonderzoeksgebieden uit de afgelopen vijf jaar
Recente externe samenwerking op landen-/regioniveau. Duik in de details door op de stippen te klikken of
-
FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research
van der Velde, K. J., Singh, G., Kaliyaperumal, R., Liao, X., de Ridder, S., Rebers, S., Kerstens, H. H. D., de Andrade, F., van Reeuwijk, J., De Gruyter, F. E., Hiltemann, S., Ligtvoet, M., Weiss, M. M., van Deutekom, H. W. M., Jansen, A. M. L., Stubbs, A. P., Vissers, L. E. L. M., Laros, J. F. J., van Enckevort, E., Stemkens, D., & 4 anderen, 13-apr.-2022, In: Scientific Data. 9, 1, 13 blz., 169.Onderzoeksoutput › Academic › peer review
Open AccessBestand2 Citaten (Scopus)49 Downloads (Pure) -
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. S., 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. & Roos, M., 15-mrt.-2022, In: Journal of Biomedical Semantics. 13, 1, 16 blz., 9.Onderzoeksoutput › Academic › peer review
Open AccessBestand7 Citaten (Scopus)38 Downloads (Pure) -
Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries
dos Santos Vieira, B., Bernabé, C. H., Zhang, S., Abaza, H., Benis, N., Cámara, A., Cornet, R., Le Cornec, C. M. A., ’t Hoen, P. A. C., Schaefer, F., van der Velde, K. J., Swertz, M. A., Wilkinson, M. D., Jacobsen, A. & Roos, M., 14-dec.-2022, In: Orphanet journal of rare diseases. 17, 1, 12 blz., 436.Onderzoeksoutput › Academic › peer review
Open AccessBestand3 Citaten (Scopus)38 Downloads (Pure) -
Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics
Alimohamed, M. Z., Westers, H., Vos, Y. J., Van der Velde, K. J., Sijmons, R. H., Van der Zwaag, P. A., Sikkema-Raddatz, B. & Jongbloed, J. D. H., 1-mrt.-2022, In: Frontiers in Genetics. 13, 7 blz., 824510.Onderzoeksoutput › Academic › peer review
Open AccessBestand12 Downloads (Pure) -
Blockchain for Genomics: A Systematic Literature Review
Alghazwi, M., Turkmen, F., Velde, J. V. D. & Karastoyanova, D., 19-nov.-2021, arXiv, 33 blz.Onderzoeksoutput: Voordruk › Academic
Bestand215 Downloads (Pure)
Activiteiten
- 1 Academic presentation
-
BioSB 2020
Lennart Johansson (Speaker), Gerben Vries, van der (Contributor), Pieter Neerincx (Contributor), Fernanda Andrade, de (Contributor), Dieuwke Roelofs-Prins (Contributor), Roan Kanninga (Contributor), Marieke Bijlsma (Contributor), Joeri Velde, van der (Contributor), Dennis Hendriksen (Contributor), Egon Rijpkema (Contributor), Wim Nap (Contributor), Henk-Jan Zilverberg (Contributor), Fokke Dijkstra (Contributor), Jan Jurjen Uitterdijk (Contributor), Gert-Jan Geijn, van de (Contributor), Steven Laurie (Contributor), Davide Piscia (Contributor), Giselle Kerry (Contributor), Anand Mohan (Contributor), Dylan Spalding (Contributor), Sergi Beltran (Contributor), Anthony Brookes (Contributor) & Morris Swertz (Contributor)
27-okt.-2020 → 28-okt.-2020Activiteit: Academic presentation › Academic
Bestand
Datasets
-
Additional file 2: Table S2. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
de Koning, T. (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
-
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. (Contributor), Sijmons, R. (Contributor) & Abbott, K. (Contributor), University of Groningen, 16-jan.-2017
DOI: 10.6084/m9.figshare.c.3666643_d1.v1
Dataset
-
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
-
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. (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
-
Additional file 1: Table S1. 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. (Contributor), Wijmenga, C. (Contributor), Sinke, R. (Contributor) & Swertz, M. (Contributor), University of Groningen, 16-jan.-2017
DOI: 10.6084/m9.figshare.c.3666643_d4.v1
Dataset