Clinical Genomics Umeå

Infrastructure Unit

Contact

Richard Palmqvist, Platform Scientific Director

richard.palmqvist@umu.se

Linda Köhn, Head of Unit

linda.kohn@umu.se

Recent user publications

The publications in this database are the result of research conducted at the units of SciLifeLab – both in user projects and technology development.

Validation of a Genetic Risk Score Combined with Clinical Variables for Predicting Pulmonary Fibrosis in early Rheumatoid Arthritis.

M. Brink, A. Wheeler, BR. England, S. Rantapää-Dahlqvist,

Recommendations for bioinformatics in clinical practice.

K. Lavrichenko, ES. Engdal, RL. Marvig, (...), S. Vang, V. Wirta, FO. Bagger,

Genome Med17 (1) 124

Comparable area under the curve for three risk scores to detect interstitial lung disease in patients with rheumatoid arthritis: an external validation.

E. Blomberg, B. Wahlin, A. Södergren,

Rheumatol. Int.45 (11) 252

Transcription of GABAA receptor subunits in circulating monocytes and association to emotional brain function in premenstrual dysphoric disorder.

L. Stiernman, E. Comasco, M. Johansson, M. Bixo,

Transl Psychiatry15 (1) 255
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SciLifeLab / Infrastructure / Clinical Genomics Umeå

Clinical Genomics Umeå

Clinical Genomics Umeå is a joint venture between Umeå University and the clinical laboratories at University Hospital of Umeå. It operates in a tight collaboration with Genomic Medicine Center North and is an integrated part of the Department of Medical Biosciences, Umeå University.

Applications

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, Data analysis)
  • QC of samples for various analyses (Sequencing data, Genomic DNA/RNA)
  • Sequencing:
    • DNA sequencing (WGS, WES, Panels, microbial genomes, metagenomics)
  • Spatial transcriptomics and proteomics
  • Other molecular technologies (Array-based analyses, Digital droplet PCR)
  • User access service (DNA/RNA concentration measurements, Automated electrophoresis for DNA/RNA)
  • Bioinformatics (Software support , Bioinformatic analysis (data generated at CG or elsewhere)
  • Cluster hardware (Support with infrastructure for NGS applications)

Equipments

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 (Tecan Fluent, Beckman i5 Automated Workstation, Myra Liquid Handling Station)
  • Various systems for QC, quantification and fragment analyses (TapeStation, Quantification using fluorescent assay (Qubit))
  • Instrumentation for microarray analysis (HiScan, iScan)
  • Instrumentation for Sanger sequencing (ABI3500 XL)
  • Instrumentation for real time PCR and ddPCR (BioRad qPCR, QIAcuity I, ABI QuantStudio 6)
  • Instrumentation for spatial and gene expression analysis
    • Bruker (GeoMx, nCounter)
  • Sequencing platforms
    • Illumina (MiSeq, NextSeq 550, NovaSeq X)
    • Nanopore (MinION)

Accessing the Local Unit

For more information about our services, please contact us at linda.kohn@umu.se

Clinical Genomics platform

If you do not find the service or technology you require, contact us at info-clinical-genomics@scilifelab.se

Last updated: 2026-03-02

Content Responsible: Marcela Davila(marcela.davila@gu.se)