About Us
The Bioinformatics group at the Unit for Genome Diagnostics (GenomeDx/GDx) is based at the Department of Medical Genetics, Oslo University Hospital, Norway (eng/no). We develop comprehensive tools for variant interpretation, annotation, data sharing, and lab automation to support clinical diagnostics of genomic data.
Our members have extensive experience and varied backgrounds ranging from software development in industrial contexts to more specialised bioinformatics in a research setting.
What We Do
High-throughput sequencing (HTS) allows for fast and cost-efficient characterisation of complete human genomes. However, the large amounts of data produced require extensive post-processing to decipher the results in a clinical context.
Our group develops software to process and interpret HTS data, and we are responsible for the bioinformatics workflows and several annotation and interpretation tools that support the diagnostic work at our department. We also develop software to automate and streamline bioinformatic processes. Our group is closely situated with the lab, genetic interpreters, medical doctors and researchers at the department, and user involvement is a central tenet of our work.
Research and Collaborations
Although our core mission is diagnostics, we are also involved in R&D activities through the research group Digital Solutions for Genomic Medicine (Digigen). In addition, we work closely with academic, institutional and commercial partners, and our department is part of several large collaboration efforts:
