About Us
The Unit for Genome Diagnostics (GenomeDx/GDx) is based at the Department of Medical Genetics, Oslo University Hospital, Norway. We develop comprehensive tools for variant interpretation, annotation, data sharing, and lab automation to support clinical genomics workflows.
Who We Are
The diagnostic bioinformatics group at OUS AMG has built a strong reputation in just a few years. Our members have extensive experience and varied background ranging from software development in various industries to more specialised bioinformatics in a research setting. We collaborate closely with people from a wide range of other disciplines within the department as well as academic, institutional and commercial partners.
What We Do
High-throughput sequencing (HTS) allows for fast and cost-efficient characterisation of DNA, and the technology is developing at a break-neck pace: Today's sequencing instruments can sequence several full human genomes in a single run, which was unimaginable only a few years back. However, a lot of data is produced (1.5 TB per instrument run) that require extensive post-processing to arrive at a good description of genetic variants in the DNA and their clinical significance.
Although our group's core mission is diagnostics, we are also involved in R&D activities through the research group Digital Solutions for Genomic Medicine (Digigen). 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. In addition, we work closely with academic, institutional and commercial partners, and OUS AMG is part of several large collaboration efforts:
