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Genome-wide mutation profiles from cell-free DNA for early cancer detection

Nature Genetics volume 55, pages 1261–1262 (2023)Cite this article

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Through whole-genome sequencing of single molecules of circulating cell-free DNA, we found that tumor-derived mutations in cancer genomes are associated with regions of late replication timing and other chromatin features. These genome-wide analyses identified altered regional mutation profiles in people with cancer that distinguished them from people without cancer and reflected tumor burden during therapy.

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Fig. 1: Detection of lung cancer using the GEMINI approach.

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This is a summary of: Bruhm, D. C. et al. Single-molecule genome-wide mutation profiles of cell-free DNA for non-invasive detection of cancer. Nat. Genet. https://doi.org/10.1038/s41588-023-01446-3 (2023).

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Genome-wide mutation profiles from cell-free DNA for early cancer detection. Nat Genet 55, 1261–1262 (2023). https://doi.org/10.1038/s41588-023-01448-1

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