Long-read sequencing identifies aberrant fragmentation patterns linked to elevated cell-free DNA levels in cancer.

Benjamin P Berman^1,2, Sarah A Erdman³, Christina Wheeler³, Justin Cayford³, Jean-Valery Turatsinze^4,5, Maria Ouzounova⁶, Marie Piecyk^7,8, Marielle Herzog⁴, Léa Payen-Gay^7,8,9, Thomas Walter^6,10, Theresa K Kelly¹¹

¹Volition America LLC, Henderson, NV, USA. ben.berman@mail.huji.ac.il.

²Department of Developmental Biology and Cancer Research, The Hebrew University of Jerusalem, The Institute for Medical Research Israel-Canada, Jerusalem, Israel. ben.berman@mail.huji.ac.il.

³Volition America LLC, Henderson, NV, USA.

⁴Belgian Volition SRL, Parc Scientifique Crealys, Isnes, Belgium.

⁵Present Address: Diagenode/Hologic, Liège, Belgium.

⁶Gastroenterology and Technologies for Health (Université Claude Bernard Lyon 1, INSERM U1052, CNRS UMR5286, Centre Léon Bérard), Cancer Research Center of Lyon, Lyon, France.

⁷Center for Innovation in Cancerology of Lyon (CICLY) UR3738, Faculty of Medicine and Maieutic Lyon Sud, Claude Bernard University Lyon I, Oullins, 69921, France.

⁸Department of Biochemistry and Molecular Biology, Lyon-Sud Hospital, Hospices Civils de Lyon, Pierre-Bénite, 69495, France.

⁹Toxicology Department, Institute of Pharmacy and Biology of Lyon (ISPB), Claude Bernard University, Lyon I 8 Avenue Rockefeller, Lyon, 69008, France.

¹⁰Department of Medical Oncology, Edouard Herriot Hospital, Hospices Civils de Lyon, Lyon, France.

¹¹Volition America LLC, Henderson, NV, USA. t.kelly@volition.com.

PubMed PMC DOI PDF

Abstract

BACKGROUND: Altered circulating cell-free DNA (cfDNA) fragmentation patterns serve as cancer biomarkers, yet standard short-read sequencing fails to capture the full fragment-length spectrum. Although cancer patients often exhibit elevated cfDNA, the relationship between high cfDNA concentration and altered fragmentation remains poorly defined. To address this question, we leverage Oxford Nanopore…

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