Clinical Genomics
The national Clinical Genomics platform was established to facilitate the translation of new high-throughput (HTP) techniques, such as next-generation sequencing (NGS), into clinical use. The overall aim of the platform is to meet the needs from translational researchers and clinicians in healthcare and public health systems by providing service and support at the national level in order to promote and adapt the use of HTP techniques in routine diagnostics.
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 diseases
- Microbial diseases and surveillance
Some of our services include
- Consultation in project and target capture design, and data analysis
- Sample management (tissue processing and resistance typing)
- QC of samples for various analyses
- Sequencing (short/long read, DNA/RNA)
- Other molecular technologies (array-based analyses, digital droplet PCR, optical genome mapping)
- Custom bioinformatics analyses
- Clinical interpretation of variants
- Training