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CRAG: de novo characterization of cell-free DNA fragmentation hotspots in plasma whole-genome sequencing

8 Dec 2022

Abstract excerpt

The fine-scale cell-free DNA fragmentation patterns in early-stage cancers are poorly understood. We developed a de novo approach to characterize the cell-free DNA fragmentation hotspots from plasma whole-genome sequencing. Hotspots are enriched in open chromatin regions, and, interestingly, 3'end of transposons. Hotspots showed global hypo-fragmentation in early-stage liver cancers and are associated with genes...

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PMID: 36482487
DOI: 10.1186/s13073-022-01141-8

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