Research Genomics

Genomics Expertise

The Radboud Technology Center Genomics offers state-of-the-art expertise in the forefront of sequencing technology developments.

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Genomics Expertise

Areas of expertise

  • DNA isolation
  • DNA biobanking
  • High throughput sequencing using targeted strategies (like PCR, hybridization or MIP-based target enrichment both for Sanger and next generation sequencing)
  • Genome wide sequencing strategies using next generation sequencing (non-invasive prenatal testing, exome and genome). 

Did you know… the Radboudumc Technology Centers? Part 5 (Blog) - RTC Genomics | Architecting genetic strategies 


Center Director

dr. Janneke Weiss
Laboratory specialist in clinical genetics

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Scientific Director

prof. dr. Alexander Hoischen

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News and Events

27-03-2024
With the arrival of the 2nd Revio, we are offering our long-read sequencing services to external parties. On Tuesday, March 19, we organized an event in collaboration with PacBio, “Radboud PacBio Day". See LinkedIn for an impression of this event.

17-04-2023
Reportage NRC handelsblad: 'Is het een schimmel, is het een virus? Sequencers profileren ziektekiemen razendsnel' hierin vertelt o.a. bio-informaticus Jordy Coolen over het sequencen op de apparaten van ons technology center.

22-12-2022
PacBio long-read sequencing in collaboration with the Senckenberg Research Institute and Natural History Museum

 

Genome assembly is a valuable resource for future conservation of species that are threatened by extinction. NGS technologies have become globally established for the study of systematic-phylogenetic issues. We collaborate with the Senckenberg Research Institute and Natural History Museum and facilitate PacBio long-read sequencing.

If interested read these recent publications and/or contact us at gtc@radboudumc.nl :

  • Chueca et al. De novo Genome Assembly of the Raccoon Dog (Nyctereutes procyonoides). Front Genet. 2021 Apr 29;12:658256. PMID: 33995489.
  • Blumer et al. Gene losses in the common vampire bat illuminate molecular adaptations to blood feeding. Sci Adv. 2022 Mar 25;8(12):eabm6494. PMID: 35333583.
  • Merges et al. Virus diversity in metagenomes of a lichen symbiosis (Umbilicaria phaea): complete viral genomes, putative hosts and elevational distributions. Environ Microbiol. 2021 Nov;23(11):6637-6650. PMID: 34697892.
  • Winter et al. A Chromosome-Scale Genome Assembly of the Okapi (Okapia johnstoni). J Hered. 2022 Oct 21;113(5):568-576. PMID: 35788365.


07-11-2022
PacBio long read amplicon sequencing

In our recent study by Daan Viering et al, PacBio long read amplicon sequencing identified 46 previously undetected exonic and intronic variants in 95 pre-screened patients with suspected Gitelman syndrome. This paper highlights that intronic pathogenic variants explain an important part of the missing heritability in Gitelman syndrome, and shows the advantage of long read amplicon sequencing for the detection of these so far hidden variants.

13-10-2022
Minister Ernst Kuipers brengt werkbezoek aan het Genomics Technology Center

Op woensdag 12 oktober heeft minister Ernst Kuipers van het Ministerie van Volksgezondheid, Welzijn en Sport een bezoek gebracht aan ons Technology Center.

Meer informatie over het werkbezoek

 

 


Genome diagnostics

We perform prenatal as postnatal genetic diagnostics. We offer diagnostics to a large number of hereditary and innate conditions.

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Contact us

GTC@radboudumc.nl
Tel: +31 (0)24 3617891

Postal address

Attn. Janneke Weiss
Genome Technology Center (Route 848)
Radboud University Medical Center
Geert Grooteplein Zuid 30
6525 GA, Nijmegen
The Netherlands


Instruments and equipment

  • NovaSeq6000 (Illumina)
  • NextSeq500 (Illumina)
  • MiniSeq (Illumina)
  • Sequel (Pacific Biosciences)
  • Sequel IIe (Pacific Biocsciences)
  • Revio (Pacific Biosciences)
  • Saphyr (Bionano)
  • ABI 3730XL analyzer (ThermoFisher)
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Instruments and equipment

In our lab we have a variety of instruments and equipment available.

  • 3x - NovaSeq6000 (Illumina)
  • 2x - NextSeq500 (Illumina)
  • 1x - MiniSeq (Illumina)
  • 2x - Sequel  (Pacific Biosciences)
  • 1x - Revio (Pacific Biosciences)
  • 5x - Sequel IIe (Pacific Biosciences)
  • 2x – Saphyr (Bionano)
  • 2x – ABI 3730XL analyzer (ThermoFisher)
     
  • Samplix Xdrop
  • Fragment analyzer
  • Megaruptor
  • Blue Pippin
  • Miroculus Miro Canvas

Services

  • Short read whole genome sequencing
  • Long read whole genome sequencing
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Services

For up to date information about sequencing projects, practical questions or prices, please contact us via GTC@radboudumc.nl

Short Read – WGS 

Long Read - WGS

With the Sequel IIe system (Pacific Biosciences) we are able to generate long sequencing reads for WGS applications. 

Hi-Fi Mode:

For generating sequencing reads with an average length of 15-20kb with a minimum accuracy of 99.9%
     - SNV, InDel and SV Detection
     - De Novo assembly

We can offer the following services:
•    Preparing whole genome libraries from gDNA and sequencing
•    Sequencing only of finished SMRTbell libraries
 

Our experts