Clinical-Sequencing

About Us

The Clinical Genomics (CG) platform was established in 2014 to meet the increasing demands by the translational research community to leverage genomic technologies towards improved diagnostics and treatment. Today, theplatform has full national outreach with nodes at all seven Swedish medical faculties, working in close collaborationwith the respective university hospital.

Given that Swedish healthcare is organized into autonomous regions, the national coverage is critical for ensuring equal access to services provided by the platform and accelerating the implementation of new diagnostics in healthcare throughout the country.

Our Nodes

The platform has seven Clinical Genomics nodes, located at all Swedish universities with medical faculties.

Gothenburg
Linköping
Lund
Stockholm
Umeå
Uppsala
Örebro


Our VISION is to positioning Sweden as a global leader in translating genomic discoveries into clinical practice and societal impact.

Our MISSION includes three key objectives:

  1. Provide world-class support for translational research and clinical studies.
  2. Adapt and optimize new genomic technologies for tomorrow’s healthcare.
  3. Contribute to a direct patient and societal impact by promoting precision medicine.

The CG platform provides expertise and cutting-edge genomic services tailored for the translational and clinical research community and for clinical trials.

Our current key TECHNOLOGIES include short- and long-read sequencing, transcriptome and methylome analysis, single-cell and spatial analysis, and ultrasensitive variant detection.

These core technologies are complemented with diagnostic and medical EXPERTISE, mainly within rare diseases, solid tumors, hematology and infectious diseases

To ensure tracking of the newest developments in key areas, we have defined seven translational TECHNOLOGY FOCUS AREAS (TFAs), each coordinated by one node. New technologies are implemented as services as they mature in each technology focus area. Depending on demand, services are subsequently disseminated to other nodes, ensuring a streamlined and efficient use of resources and expertise. 

With this unique combination of technological and medical expertise, we can provide a comprehensive END-TO-END SERVICE including understanding of clinical needs and guidance on experimental design, technical assay development, software development, quality assurance, and clinical interpretation. 


The CG platform maintains a large network in the national and international research communities, organizations and industries, where our close connections to healthcare us a particularly valuable partner for technology development, testing and translation.

Within SciLifeLab, we collaborate with NGI on wet-lab protocols and bioinformatics for various sequencing techniques.

Within the Precision Medicine Capability, we provide end-to-end service for clinical research, support clinical trials with validated assays, develope and implement diagnostic assays in collaboration with healthcare, and constituting the technical backbone of GMS. 

We have been instrumental in providing services and developing resources during the Covid-19 pandemic. Within the Pandemic Laboratory Preparedness Capability, we establish tools and analyses for microorganism identification and typing, provide visualization tools and data sharing in real time to national resources for surveillance. 

While activities within the Planetary Biology Capability are not our main focus, several bioinformatic pipelines for the analysis of gene expression and epigenetic data, have found wider applicability in biodiversity research.


In addition to our research services, our platform spear-heads the development, validation, and implementation of genomic-based methods for individualized patient care and precision medicine at a national scale, in collaboration with the national precision medicine program Genomic Medicine Sweden (GMS), which was initiated by our platform in 2018. 

Swedish University Hospitals: The integration of the CG platform with all seven Swedish university hospitals provides a strong link between SciLifeLab and healthcare. We have close relations with Regional Cancer Centers, Genomic Medicine Centers, Precision Medicine Centers and Centers for Rare Diseases, ensuring that novel diagnostic methods developed by the platform are introduced into national care programs and support clinical trials.

Biobanking: The CG platform has close connections to the national biobanking infrastructure Biobank Sweden. Biobank Sweden coordinates centers at the university hospitals and provides access to high quality samples for research as well as rare samples needed for validation purposes.

Industry: We are actively involved in the rapidly growing genomics based precision diagnostics community, collaborating with industry leaders like Bristol-Myers Squibb, Illumina, Oxford Nanopore Technologies, Rarity Bioscience, and Incyte. Together, we test new products, innovate diagnostic methods, and contribute to clinical studies, making Sweden more attractive for clinical trials. This not only benefits patient access to cutting-edge diagnostics but also reduces costs for novel healthcare treatments.