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Lookup NU author(s): Misti McCainORCiD,
Professor Derek Mann,
Professor Helen ReevesORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
AbstractINTRODUCTIONRESULTSDISCUSSIONMATERIALS AND METHODSAcknowledgmentsSupplementary MaterialsREFERENCES AND NOTES0eLettersAbstractMultimodal, genome-wide characterization of epigenetic and genetic information in circulating cell-free DNA (cfDNA) could enable more sensitive early cancer detection, but it is technologically challenging. Recently, we developed TET-assisted pyridine borane sequencing (TAPS), which is a mild, bisulfite-free method for base-resolution direct DNA methylation sequencing. Here, we optimized TAPS for cfDNA (cfTAPS) to provide high-quality and high-depth whole-genome cell-free methylomes. We applied cfTAPS to 85 cfDNA samples from patients with hepatocellular carcinoma (HCC) or pancreatic ductal adenocarcinoma (PDAC) and noncancer controls. From only 10 ng of cfDNA (1 to 3 ml of plasma), we generated the most comprehensive cfDNA methylome to date. We demonstrated that cfTAPS provides multimodal information about cfDNA characteristics, including DNA methylation, tissue of origin, and DNA fragmentation. Integrated analysis of these epigenetic and genetic features enables accurate identification of early HCC and PDAC.
Author(s): SiejkaZielinska P, Cheng J, Jackson F, Liu Y, Soonawalla Z, Reddy S, Silva M, Puta L, McCain MV, Culver E, Bekkali N, SchusterBockler B, Palamara PF, Mann D, Reeves H, Barnes E, Sivakumar S, Song C
Publication type: Article
Publication status: Published
Journal: Science Advances
Online publication date: 01/09/2021
Acceptance date: 01/09/2021
Date deposited: 17/11/2021
ISSN (electronic): 2375-2548
Publisher: American Association for the Advancement of Science (AAAS)
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