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Setting Up Next-Generation Sequencing in the Medical Laboratory

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Clinical Bioinformatics

Part of the book series: Methods in Molecular Biology ((MIMB,volume 1168))

Abstract

The introduction of next-generation sequencing (NGS) technologies in research has proven to be very successful in the past 8 years. Now, there is considerable demand to apply these technologies for clinical diagnosis. The translation of research-to-clinical practice brings with it a unique set of challenges, particularly when it comes to setting up NGS in the medical laboratory. The practical issues related to infrastructure, selecting which NGS platform, and dealing with informatics requirements are discussed. Application of NGS for clinical diagnosis requires robust quality assurance at multiple levels including sample assessment, library preparation, template generation, and sequencing data which need to be generated, analyzed, and stored. The requirements for data generation, analysis, and storage are considerable.

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Abbreviations

ePCR:

Emulsion PCR

NGS:

Next-generation sequencing

qPCR:

Real-time/quantitative PCR

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Author information

Authors and Affiliations

  1. Department of Medical Genomics, Royal Prince Alfred Hospital, Missenden Road, Camperdown, NSW, 2050, Australia

    Bing Yu

  2. Sydney Medical School, University of Sydney, Sydney, NSW, Australia

    Bing Yu

Authors
  1. Bing Yu
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Corresponding author

Correspondence to Bing Yu .

Editor information

Editors and Affiliations

  1. Department of Medical Genomics, Royal Prince Alfred Hospital and Sydney Medical School, University of Sydney, Camperdown, Australia

    Ronald Trent

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© 2014 Springer Science+Business Media New York

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Yu, B. (2014). Setting Up Next-Generation Sequencing in the Medical Laboratory. In: Trent, R. (eds) Clinical Bioinformatics. Methods in Molecular Biology, vol 1168. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-0847-9_11

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  • DOI: https://doi.org/10.1007/978-1-4939-0847-9_11

  • Published:

  • Publisher Name: Humana Press, New York, NY

  • Print ISBN: 978-1-4939-0846-2

  • Online ISBN: 978-1-4939-0847-9

  • eBook Packages: Springer Protocols

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