Nanopore sequencing from liquid biopsy: analysis of copy number variations from cell-free DNA of lung cancer patients.

ABSTRACT: In the "precision oncology" era the characterization of tumor genetic features is a pivotal step in cancer patients' management. Liquid biopsy approaches, such as analysis of cell-free DNA from plasma, represent a powerful and noninvasive strategy to obtain information about the genomic status of the tumor. Sequencing-based analyses of cell-free DNA, currently performed with second generation sequencers, are extremely powerful but poorly scalable and not always accessible also due to instrumentation costs. Third generation sequencing platforms, such as Nanopore sequencers, aim at overcoming these obstacles but, unfortunately, are not designed for cell-free DNA analysis.Here we present a customized workflow to exploit low-coverage Nanopore sequencing for the detection of copy number variati

SUBMITTER: Martignano F 

PROVIDER: S-EPMC7881593 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature