: The Oxford Nanopore (ONT) platform provides portable and rapid genome sequencing, and its ability to natively profile DNA methylation without complex sample processing is attractive for point-of-care real-time sequencing. We recently demonstrated ONT shallow whole-genome sequencing to detect copy number alterations (CNAs) from the circulating tumor DNA (ctDNA) of cancer patients. Here, we show that cell type and cancer-specific methylation changes can also be detected, as well as cancer-associated fragmentation signatures. This feasibility study suggests that ONT shallow WGS could be a powerful tool for liquid biopsy.

Detecting cell-of-origin and cancer-specific methylation features of cell-free DNA from Nanopore sequencing

Petrini, Iacopo;
2022-01-01

Abstract

: The Oxford Nanopore (ONT) platform provides portable and rapid genome sequencing, and its ability to natively profile DNA methylation without complex sample processing is attractive for point-of-care real-time sequencing. We recently demonstrated ONT shallow whole-genome sequencing to detect copy number alterations (CNAs) from the circulating tumor DNA (ctDNA) of cancer patients. Here, we show that cell type and cancer-specific methylation changes can also be detected, as well as cancer-associated fragmentation signatures. This feasibility study suggests that ONT shallow WGS could be a powerful tool for liquid biopsy.
2022
Katsman, Efrat; Orlanski, Shari; Martignano, Filippo; Fox-Fisher, Ilana; Shemer, Ruth; Dor, Yuval; Zick, Aviad; Eden, Amir; Petrini, Iacopo; Conticell...espandi
File in questo prodotto:
File Dimensione Formato  
NANOPORE-2.pdf

accesso aperto

Tipologia: Versione finale editoriale
Licenza: Creative commons
Dimensione 2.65 MB
Formato Adobe PDF
2.65 MB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11568/1216984
Citazioni
  • ???jsp.display-item.citation.pmc??? 24
  • Scopus 40
  • ???jsp.display-item.citation.isi??? 29
social impact