The research infrastructure Clinical Genomics Stockholm (CGS) provides advanced genomic analyses, including large-scale DNA and RNA sequencing, to research groups at Swedish universities, healthcare , and other public authorities. CGS plays a vital role in advancing precision medicine, particularly in areas such as cancer, rare inherited diseases and infectious diseases.
Between 2021 and 2024, Clinical Genomics Stockholm analyzed more than 130,000 samples and contributed to over 100 scientific publications. A flagship initiative focused on diagnostics for rare inherited diseases involved sequencing over 22,000 whole genomes, with approximately 40% of patients receiving a molecular diagnosis.
CGS offers comprehensive support, from planning to clinical interpretation, and aims to provide analyses with rapid turnaround times. The facility continually expands its analysis portfolio, recently incorporating long-read sequencing, optical mapping, and advanced bioinformatics tools for data interpretation. Looking ahead, key areas of focus include developing multimodal analyses, enhancing sensitive cancer diagnostics, and applying machine learning techniques to improve data interpretation.
The facility operates on a weekly schedule for analyses and has a dedicated project coordinator to assist users. Training and collaboration with national and international infrastructures are integral to its operations. CGS is also committed to sustainability by optimizing the coordination of analyses and ensuring the infrastructure is accessible to industry partners. Future plans involve further technological advancements and method development to meet evolving user needs and support scientific and clinical progress in genomics and precision medicine.