Clinical Genomics Stockholm Core Facility - our offer

The Clinical Genomics Stockholm Core Facility assists in translational research projects, in the translation of genomics-based tools to routine clinical care and also aims to improve the capability for national microbial surveillance and for pandemic preparedness.

The activities within the Clinical Genomics facility are centered around applying and validating high-throughput genomic technologies for future implementation into clinical diagnostics within the health-care system.

We provide expertise, method development and end-to-end service to translational research and precision diagnostics for the development of tomorrow’s diagnostics. Our current disease focus areas are:

  • Cancers (including solid tumors and hematological malignancies)
  • Rare inherited disease
  • Microbial diseases and surveillance

Services

Our national services within NGS and other molecular technologies include development of methods for clinical implementation or translational research with strong clinical utility. These include, but are not restricted to:

  • Consultation (Project design, Target capture design)
  • Sample management (Resistance typing)
  • Sequencing:
    • DNA sequencing (WGS, WES, Panels, microbial genomes, metagenomics)
    • RNA sequencing (total RNA, mRNA)
  • Other molecular technologies (Optical genome mapping)
  • Bioinformatics (Bioinformatic analysis (data generated at CG or elsewhere))

Equipment

Our node has access to specialized equipment that enable us to factilitate the translation of new high-throuput techniques into clinical use. These include, but are not restricted to:

  • Various automatic robotic systems (BRAVO NGS Workstation, Hamilton NGS Star)
  • Various systems for QC, quantification and fragment analyses (TapeStation, Quantification using fluorescent assay (Qubit, Quantit))
  • Instrumentation for real time PCR and ddPCR (BioRad qPCR)
  • Instrumentation for Multispectral imaging (Saphyr optical mapper)
  • Sequencing platforms:
    • Illumina (NovaSeq 6000, NovaSeq 6000 Dx, NovaSeq X)
    • Nanopore (PromethION “access via NGI”)
    • PacBio (Revio)

Fees and principles for prioritisation

The fee structure of the unit is set so that the entire or parts of the RI’s costs are covered. The estimated analysis fees vary depending on whether the user is a government agency, healthcare or a private company. A committee makes prioritizing decisions following a technical feasibility assessment, after which samples are processed according to date of reception.