Improvement of clinical diagnostics for neoplasm patients using new sequencing techniques and algorithms
Within this project we aim to analyse diagnostically relevant parts of the genome using targeted next generation sequencing. We are investigating mutations and will provide each patient's results within an individual clinical report. For routine clinical use, a (semi-)automatic identification of known mutations with references to their importance for prognosis and treatment shall be developed.
The project is funded by the Deutsche Krebshilfe (German Cancer Aid) and conducted in cooperation with Prof. Müller-Tidow's team at the university medical center Halle.
The genomic target sequences are optimized for Leukaemia within this project. However, the methods are flexible enough to be adapted as new knowledge arises, or to be applied to any other neoplasms or genetically conditioned diseases in general.
Here at IMI we are in charge of data procession, optimization of pipelines for variant calling, the development of a mutations database and the development of the graphical user interface ("AML-Varan") for clinical use.