Cancer genomics by Third Generation Sequencing of cell free DNA from liquid biopsy

In the “precision oncology” era, characterisation of tumour genetic features is a pivotal step in cancer patients’ management. In contrast to the invasiveness of biopsies, liquid biopsy -the analysis of circulating tumour DNA from plasma cell-free DNA- represents a promising option for disease monitoring, but its use has been limited either to specific subsets of biomarkers or by financial/logistical issues.

In this part, I will show how shallow whole genome sequencing using Nanopore technology represents a competitive approach for cfDNA analysis, through which multiple features, both genetic and epigenetic can be extracted and exploited.