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

• DOI: 10.1186/s13059-022-02710-1
• Publication Date: 2022-07-15T08:02:54Z
• Authors: Efrat Katsman; Shari Orlanski; Filippo Martignano; Ilana Fox-Fisher; Ruth Shemer; Yuval Dor; Aviad Zick; Amir Eden; Iacopo Petrini; Silvestro G. Cont...; Benjamin P. Berman
• Keywords: Nanopore; Human genetics

The Oxford Nanopore (ONT) platform provides portable and rapid genome sequencing, 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 detect copy number alterations (CNAs) from the circulating tumor (ctDNA) of cancer patients. Here, we show that cell type cancer-specific changes can also be detected, as well cancer-associated fragmentation signatures. This feasibility study suggests WGS could a powerful tool liquid biopsy.