Translational bioinformatics

Translational bioinformatics is defined as: ”The development of storage, analytic, and interpretive methods to optimize the transformation of increasingly voluminous biomedical data into proactive, predictive, preventative, and participatory health”. Our group carries out research focused on translating massively parallel sequencing via automated bioinformatics analysis, informatics solutions, and reporting systems to aid in clinical settings. Projects include long-read amplicon sequencing of chronic myeloid leukemia (CML), TP53, and multi-drug resistant bacteria. We are also part of the joint SeRC-eSSENCE flagship project “e-Science for Cancer Prevention and Control” (eCPC). Collaborators include the National Genomics Institute (NGI), Uppsala Academic Hospital, and Karolinska Institutet.

Figure: Screenshot from our developed system for translating long-read amplicon sequencing to be used as decision-aid for chronic myeloid leukemia (CML) with mutation frequencies in the Philadelphia chromosome