The Department of Hematology Oncology at Policlinico San Matteo (Pavia) has a long history of competitive biomedical research and has been an early adopter of sequencing technologies for the identification of recurrent genetic events as a direct approach to understand cancer biology and to create innovative and prognostic strategies.

We supported the Department with regards to the bioinformatics aspects related to cancer genome sequencing. Molecular data deriving from NGS experiments are routinely processed accordingly to high quality gold standard procedures developed and regularly updated by enGenome. We addressed therefore several challenges related to cancer sequencing as the detection of somatic variants with low allelic burden and the definition of strict procedures to filter germline variants from unpaired samples.

We also contributed to define and set up an efficient informatics infrastructure to guarantee the reproducibility of their analysis and a quick turnaround time.

As a result, Hematology has been rapidly transformed by genomic characterization, further enhancing precision oncology.