The Clinical Bioinformatics group is part of the the Department of Genetics, which also consists of four other sections; Clinical Genetics, Genome diagnostics, Metabolic Diseases and Research. The sections work closely together, allowing us to quickly introduce new findings and technologies into patient care.

The Bioinformatics Team
The bioinformatics team is responsible for (automated) processing and visualization of NGS (Next-generation Sequencing) and DIMS (Direct Infusion Mass Spectrometry) data from patient samples. Our bioinformatic workflows are crucial for finding a diagnosis, hence, they are part of the ISO-15189 accreditation of the medical laboratory and comply to the IVDR.

We strive to automate as many workflows as possible, leaving us with less hands-on time per patient, and more time for maintenance, innovation and research. Additionally, we optimize the technical aspects of our workflows, such as optimizing compute resources, adding unit testing, and properly documenting the code. Our work transcends that of the department of Genetics, and hence, we work together with other departments within dLAB who require bioinformatics for patient care.

• We develop and maintain bioinformatic workflows for the department of Pathology, in particular Molecular Pathology, where sequencing data is used to diagnose patients. We are also responsible for analyzing the sequencing data.
• We develop and maintain the pharmacogenetics workflow in collaboration with the department of Pharmacy and Immunology. We are responsible for analyzing the sequencing data, enabling pharmacists to provide personalized medicine recommendations to patients.

We collaborate in several research projects, mainly within the Genetics Department. Our bioinformatic workflows are also used for research, either because patients are involved that need the diagnostic workflow, or because the workflow is steady.

Research within the Clinical Bioinformatics group involves groups of patients with a similar clinical presentation, or unsolved cases that require additional data and/or analysis.