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

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Filippo Martignano, Stefania Crucitta, Alessandra Mingrino, Roberto Semeraro, Marzia Del Re, Iacopo Petrini, Alberto Magi, Silvestro G. Conticello

Published: 23 Jun 2020, Last Modified: 03 Feb 2026CrossrefEveryoneRevisionsCC BY-SA 4.0
Abstract: h3>ABSTRACT</h3> <p>Alterations in the genetic content, such as Copy Number Variations (CNVs) is one of the hallmarks of cancer and their detection is used to recognize tumoral DNA. Analysis of cell-free DNA from plasma is a powerful tool for non-invasive disease monitoring in cancer patients. Here we exploit third generation sequencing (Nanopore) to obtain a CNVs profile of tumoral DNA from plasma, where cancer-related chromosomal alterations are readily identifiable.</p><p>Compared to Illumina sequencing -the only available alternative- Nanopore sequencing represents a viable approach to characterize the molecular phenotype, both for its ease of use, costs and rapid turnaround (6 hours).</p>