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 Uppsala University Hospital and has extensive experience of development and implementation of state-of-the-art next-generation sequencing (NGS) technology in routine diagnostics.
Services
We provide expertise, end-to-end service, and method development for translational and clinical research. Our services include:
- Support with project design
- Tissue processing and nucleic acid extraction
- QC of samples prior to analysis
- Sequencing library preparation
- NGS and other molecular technologies
- Bioinformatics support
- Clinical interpretation of genetic variants
Key equipment
- Illumina instruments for short-read sequencing
- ONT and PacBio instruments for long-read sequencing
- BioRad instruments for digital PCR
- Mission Bio Tapestri for single-cell multi-omics
- NanoString nCounter for gene expression analysis
More information and contact
For more information about our services, please contact us at clinicalgenomicsuppsala@scilifelab.se or visit our website:
National Clinical Genomics platform
Clinical Genomics Uppsala is one of seven nodes at the national Clinical Genomics platform. To learn more about the services at a national level, please visit the website of the Clinical Genomics platform.