Clinical Genomics Stockholm

National facility

Clinical genomics

The Clinical Genomics facility provides a dedicated research infrastructure for projects utilising massively parallel sequencing technologies. All projects are carried out in close collaboration with the Swedish healthcare system. The facility serves as a competence center assisting the translation of genomics-based tools to routine clinical care. All work is carried out in close collaboration with medical expertise provided by the clinical diagnostic laboratories and patients’ managing physicians. Also, the facility aims to improve the capacity of the public health microbiology for national surveillance of infectious diseases and for epidemic preparedness.

SERVICES

  • DNA sequencing.
    • Clinical exome sequencing
    • Clinical whole-genome sequencing
    • Microbial whole-genome sequencing
    • Targeted panels using various bait sets (contact for detailed information)
    • RNA Seq using both poly A and random priming
    • Ready-made libraries (prepared by collaborator)

APPLICATIONS

  • Large-scale analyses of the human genome and transcriptome, including targeted panels, exomes and whole genomes.
  • Microbial analyses based on whole genome sequencing.
  • Microbiota profiling and molecular diagnostics based on 16S sequencing.

Current focus areas include inherited diseases, cancers and microbial surveillance applications. We are continuously looking for additional applications to expand the current focus areas.

EQUIPMENT

Library preparation

  • Covaris E220 and S2 systems
  • Agilent Bravo Configuration B systems
  • Tecan liquid handling system
  • Various systems for QC and quantification

Sequencing systems

  • Illumina HiSeq X
  • Illumina HiSeq 2500
  • Illumina MiSeq

RECENT PROJECTS

  • Rare inherited diseases: Since January 2014 we are collaborating with three clinics at Karolinska University Hospital in diagnostics of rare inherited diseases. Exome and whole-genome sequencing has been applied to >1500 cases (Aug 2016), covering more than 10 different categories of disorders. Samples are currently processed in 6-12 days on routine basis.
  • Cancer:  We are collaborating with several groups working on translational and diagnostics cancer projects, using a repertoire of techniques ranging from panel strategies to exomes and whole genomes. We have established capability to carry out time critical analyses for clinical trial purposes.
  • Microbial whole-genome sequencing for surveillance and outbreak monitoring purposes. We have established the capability to carry out low-cost microbial whole-genome sequencing to enable these large-scale projects. Contact us for information regarding pricing of these applications.