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Analysis of Tandem Repeat Expansions Using Long DNA Reads

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Book cover Nanopore Sequencing

Part of the book series: Methods in Molecular Biology ((MIMB,volume 2632))

Abstract

Abnormal expansion or shortening of tandem repeats can cause a variety of genetic diseases. The use of long DNA reads has facilitated the analysis of disease-causing repeats in the human genome. Long read sequencers enable us to directly analyze repeat length and sequence content by covering whole repeats; they are therefore considered suitable for the analysis of long tandem repeats. Here, we describe an expanded repeat analysis using target sequencing data produced by the Oxford Nanopore Technologies (hereafter referred to as ONT) nanopore sequencer.

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Author information

Authors and Affiliations

  1. Department of Genomic Function and Diversity, Tokyo Medical and Dental University, Tokyo, Japan

    Satomi Mitsuhashi

  2. Division of Neurology, Department of Internal Medicine, St. Marianna University School of Medicine, Kawasaki, Kanagawa, Japan

    Satomi Mitsuhashi

  3. Artificial Intelligence Research Center, AIST, Tokyo, Japan

    Martin C. Frith

  4. Graduate School of Frontier Sciences, University of Tokyo, Chiba, Japan

    Martin C. Frith

  5. Computational Bio Big-Data Open Innovation Laboratory, AIST, Tokyo, Japan

    Martin C. Frith

Authors
  1. Satomi Mitsuhashi
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  2. Martin C. Frith
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Corresponding author

Correspondence to Satomi Mitsuhashi .

Editor information

Editors and Affiliations

  1. Institute for Advanced Biosciences, Keio University, Tsuruoka, Japan

    Kazuharu Arakawa

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© 2023 The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature

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Mitsuhashi, S., Frith, M.C. (2023). Analysis of Tandem Repeat Expansions Using Long DNA Reads. In: Arakawa, K. (eds) Nanopore Sequencing. Methods in Molecular Biology, vol 2632. Humana, New York, NY. https://doi.org/10.1007/978-1-0716-2996-3_11

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  • DOI: https://doi.org/10.1007/978-1-0716-2996-3_11

  • Published:

  • Publisher Name: Humana, New York, NY

  • Print ISBN: 978-1-0716-2995-6

  • Online ISBN: 978-1-0716-2996-3

  • eBook Packages: Springer Protocols

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