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Speed reading the epigenome and genome

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Science & Nature

Dual sequencing of the epigenome and genome could have broad implications in oncology.

Technologies for sequencing the epigenome are becoming a priority for precision medicine as epigenetic abnormalities are implicated in a growing number of diseases of aging1,2. To be clinically relevant, new sequencing methods should be able to identify epigenetic modifications while preserving the high accuracy of genome sequencing. A study in Nature Biotechnology by Füllgrabe et al.3 achieves this goal for the physiologically important epigenetic modifications 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC). Their six-base sequencing method accurately identifies these two modified bases along with the four unmodified DNA bases (A, G, C, T) in a single workflow. The approach has exciting implications for a wide array of applications including clinical sequencing, as the authors demonstrate in a test liquid biopsy from a patient with colon cancer.

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Fig. 1: Simultaneous epigenetic and genetic base capture by five-letter and six-letter sequencing.

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Author information

Authors and Affiliations

  1. Michigan Center for Translational Pathology, University of Michigan, Ann Arbor, MI, USA

    James M. George & Arul M. Chinnaiyan

  2. Department of Pathology, University of Michigan, Ann Arbor, MI, USA

    Arul M. Chinnaiyan

  3. Howard Hughes Medical Institute, University of Michigan, Ann Arbor, MI, USA

    Arul M. Chinnaiyan

  4. Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA

    Arul M. Chinnaiyan

  5. Department of Urology, University of Michigan, Ann Arbor, MI, USA

    Arul M. Chinnaiyan

  6. Rogel Cancer Center, University of Michigan, Ann Arbor, MI, USA

    Arul M. Chinnaiyan

Corresponding author

Correspondence to
Arul M. Chinnaiyan.

Ethics declarations

Competing interests

A.M.C. serves on the scientific advisory board of Tempus and has a financial interest in the company.

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Cite this article

George, J.M., Chinnaiyan, A.M. Speed reading the epigenome and genome.
Nat Biotechnol (2023). https://doi.org/10.1038/s41587-023-01757-0

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  • DOI: https://doi.org/10.1038/s41587-023-01757-0

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James M. George

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