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Next-Generation Sequencing for Gene Panels

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Genomic Applications in Pathology

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Abstract

Many molecular diagnostic laboratories are implementing next-generation sequencing (NGS)-based gene panels by harnessing the power of massively parallel sequencing technologies. NGS has dramatically expanded the capabilities of laboratories by multiplexing and streamlining DNA sequencing workflows. Replacing traditional target amplification techniques with in-solution enrichment technologies has simplified sequencing template preparation, greatly increasing the productivity of individual laboratories. Multigene panels can be performed with gene-specific target enrichment probes or by gene list-driven informatic analysis of exomes or genomes. Improved efficiency of molecular genetic testing, driven by the development and implementation of comprehensive disease-targeted gene panels, is propelling the advancement of genomic medicine.

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Authors and Affiliations

  1. Department of Pathology, UW Medicine Center for Precision Diagnostics, Northwest Clinical Genomics Laboratory, Seattle, WA, USA

    Michael O. Dorschner

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  1. Michael O. Dorschner
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Correspondence to Michael O. Dorschner .

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Editors and Affiliations

  1. Professor and Chair of Pathology, University of Alabama at Birmingham, Birmingham, AL, USA

    George Jabboure Netto

  2. Department of Pathology and Laboratory Medicine, NorthShore University HealthSystem, Clinical Professor of Pathology, University of Chicago Pritzker School of Medicine, Evanston, IL, USA

    Karen L. Kaul

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Dorschner, M.O. (2019). Next-Generation Sequencing for Gene Panels. In: Netto, G., Kaul, K. (eds) Genomic Applications in Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-96830-8_16

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  • DOI: https://doi.org/10.1007/978-3-319-96830-8_16

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-96829-2

  • Online ISBN: 978-3-319-96830-8

  • eBook Packages: MedicineMedicine (R0)

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