Clinical Genomics Uppsala

Clinical Genomics Uppsala is jointly set up by Uppsala University, Uppsala University Hospital and SciLifeLab with the aim to catalyze the transition of novel research findings into molecular diagnostics for clinical use. The unit is fully integrated within the Uppsala University Hospital and has extensive experience in development and implementation of state-of-the-art next-generation sequencing (NGS) technology in routine diagnostics. We take on research and development projects with a clear translational profile. With our team of associated geneticists, bioinformaticians and medical doctors, we can deliver clinical assessments of the detected variants with the aim to truly provide bench-to-bedside service.

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, Target capture design, Data analysis)
• Sample management (Tissue processing, Resistance typing)
• QC of samples for various analyses (Sequencing data, Genomic DNA/RNA)
• Sequencing:
  • DNA sequencing (WGS, WES, Panels, microbial genomes, metagenomics)
  • RNA sequencing (mRNA)
• Other molecular technologies (Optical genome mapping, SuperRCA)
• Bioinformatics (Software support , Bioinformatic analysis (data generated at CG or elsewhere))
• Clinical interpretation (Variants)
• Training and Education (Master courses)

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 (Hamilton NGS Star, Beckman i5 Automated Workstation)
• Various systems for QC, quantification and fragment analyses (TapeStation, Quantification using fluorescent assay (Qubit, Quantit))
• Instrumentation for library preparation including single cell (Mission Bio Tapestri)
• Instrumentation for real time PCR and ddPCR (BioRad qPCR, QX200 Droplet Digital PCR System)
• Sequencing platforms:
  • Illumina ( MiniSeq, MiSeq, NextSeq 500, NextSeq 550, NextSeq 550 Dx, NextSeq 2000, NovaSeq X)
  • Nanopore (GridION, PromethION “Access via NGI”)
  • PacBio (Revio “Access via NGI”)

Accessing the Local Unit

For more information about our services, please visit our websites:

Clinical Genomics

If you do not find the service or technology you require, contact us directly or visit another Clinical Genomics node.