Genomics Services Aiming at Translation into Clinical Use  

The synergy of technological and clinical expertise drives progress towards clinical applications. The Clinical Genomics platform offers expertise, method development and end-to-end services, facilitating translational research and precision diagnostics. Some of our services are:

  • Consultation in project and target capture design, and data analyses
  • Sample management 
    • Tissue processing
    • Resistance typing
  • QC of samples for various analyses 
    • Sequencing data
    • Genomic DNA/RNA
  • Sequencing
    • DNA sequencing 
      • Whole genome sequencing (WGS)
      • Whole exome sequencing (WES)
      • Panels
      • Ultra-deep sequencing
      • microbial genomes
      • metagenomics
    • RNA sequencing 
      • total RNA
      • mRNA
      • single cell
  • Other molecular technologies 
    • Array-based analyses
    • Digital droplet PCR
    • Optical genome mapping
  • Custom bioinformatic analyses
  • Clinical interpretation of variants
  • Training

Project prioritization: The platform provides service for clinical and translational research, either on a first-come first-served basis, or prioritized based on clinical need. Collaborative development projects are prioritized based on the expected importance of the development work for future research service projects or healthcare applications. Project requests are typically directed to a specific node and assessed by the local management group. If the node initially contacted is not best suited to provide the requested service, projects are referred to another node within the platform or to NGI.

User fee models: Academic users benefit from a subsidized cost. Cost models are based on a cost per sample, on reagent costs, and/or on hourly fees for experimental work and bioinformatics. Collaborative projects can be further subsidized or covered by joint grants. For industry and healthcare users, we apply a full-cost model. Work is ongoing on implementation of the new government ordinance relating to how research infrastructures can charge for their services.