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Mate Pair Sequencing: Next-Generation Sequencing for Structural Variant Detection

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Clinical Applications of Nucleic Acid Amplification

Part of the book series: Methods in Molecular Biology ((MIMB,volume 2621))

Abstract

Structural variant detection by next-generation sequencing (NGS) methods have a higher molecular resolution than conventional cytogenetic techniques (Aypar et al., Eur J Haematol 102(1):87–96, 2019; Smadbeck et al., Blood Cancer J 9(12):103, 2019) and are particularly helpful in characterizing genomic rearrangements. Mate pair sequencing (MPseq) leverages a unique library preparation chemistry involving circularization of long DNA fragments, allowing for a unique application of paired-end sequencing of reads that are expected to map 2–5 kb apart in the genome. The unique orientation of the reads allows the user to estimate the location of breakpoints involved in a structural variant either within the sequenced reads or between the two reads. The precision of structural variant and copy number detection by this method allows for characterization of cryptic and complex rearrangements that may be otherwise undetectable by conventional cytogenetic methods (Singh et al., Leuk Lymphoma 60(5):1304–1307, 2019; Peterson et al., Blood Adv 3(8):1298–1302, 2019; Schultz et al., Leuk Lymphoma 61(4):975–978, 2020; Peterson et al., Mol Case Studies 5(2), 2019; Peterson et al., Mol Case Studies 5(3), 2019).

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Authors and Affiliations

  1. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA

    Beth A. Pitel, Eric Zimmerman Zuckerman & Linda B. Baughn

Authors
  1. Beth A. Pitel
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  2. Eric Zimmerman Zuckerman
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  3. Linda B. Baughn
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Correspondence to Beth A. Pitel .

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Editors and Affiliations

  1. Division of Genetic and Molecular Toxicology, National Center for Toxicological Research, U.S. Food and Drug Administration, Jefferson, AR, USA

    Meagan B. Myers

  2. Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC, USA

    Cynthia A. Schandl

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Pitel, B.A., Zuckerman, E.Z., Baughn, L.B. (2023). Mate Pair Sequencing: Next-Generation Sequencing for Structural Variant Detection. In: Myers, M.B., Schandl, C.A. (eds) Clinical Applications of Nucleic Acid Amplification. Methods in Molecular Biology, vol 2621. Humana, New York, NY. https://doi.org/10.1007/978-1-0716-2950-5_9

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  • DOI: https://doi.org/10.1007/978-1-0716-2950-5_9

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  • Publisher Name: Humana, New York, NY

  • Print ISBN: 978-1-0716-2949-9

  • Online ISBN: 978-1-0716-2950-5

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