Q-building, 5th floor, Geert Grooteplein Zuid, 6525 GA Nijmegen
+31 24 3613799
The Radboudumc Genome Technology center is in its core a clincal oriented facility. All workflows in the laboratory are iso15189 accredited.
- Biomedical & health
- automation - liquid handling
- Human Genetics
Expertise and Track Record
- BRCA Testing by Single-Molecule Molecular Inversion Probes. Clin Chem. 2017 Feb;63(2):503-512. doi: 10.1373/clinchem.2016.263897. Epub 2016 Dec 14.
- Reliable Next-Generation Sequencing of Formalin-Fixed, Paraffin-Embedded Tissue Using Single Molecule Tags. J Mol Diagn. 2016 Nov;18(6):851-863. doi: 10.1016/j.jmoldx.2016.06.010. Epub 2016 Sep 13.
- Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. Genet Med. 2016 Oct 27. doi: 10.1038/gim.2016.163.
- Diagnostic exome sequencing in 266 Dutch patients with visual impairment. Eur J Hum Genet. 2017 May;25(5):591-599.
- The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands. Eur J Hum Genet. 2017 Feb;25(3):308-314
- A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. Genet Med. 2017 Mar 23. doi: 10.1038/gim.2017.1
- A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat. 2013 Dec;34(12):1721-6.
- 1 post doc
- 15 technicians
- 1 laboratory manager
- 4 bioinformaticians
- 1 ICT / LIMS expert
- ABI3730XL (2)
- Illumina NextSeq500 (6) + MiniSeq (1)
- ThermoFisher Iontorrent PGM (3) + Ionchef (2)
- PacBio Sequel (1)
- Hamilton liquid handler (18)
- Liconic Biobank storage unit (1)