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Next Generation Clinical Diagnostics: The Sequence of Events

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Molecular Diagnostics

Part of the book series: Molecular and Translational Medicine ((MOLEMED))

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Abstract

The development of automated sequencing platforms based upon capillary electrophoresis and fluorescently labeled terminator bases made it possible to generate the first draft sequence of the human genome. However, what started as an effort to develop new technologies to sequence entire human genomes cheaper and faster than capillary electrophoresis-based technologies has engendered a sequencing revolution that has resulted in tremendous increases in sequence output capacity. Since the introduction of these so-called next-generation sequencing technologies in 2006, the sequencing output of various platforms has been increasing greater than fivefold every year. This has led to dramatic increases in sequencing output and correspondingly decreased costs for DNA sequencing. These sequencing platforms will quickly make whole genome sequencing so affordable that it will inevitably become a routine part of clinical practice. In this chapter we will review the sequencing revolution and discuss the potential clinical applications of this transformative technology.

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Author information

Authors and Affiliations

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

    Nicole Hoppman Ph.D.

  2. Division of Experimental Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA

    David I. Smith Ph.D.

  3. Division of Biomedical Informatics, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN, USA

    Eric W. Klee Ph.D.

  4. Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA

    Matthew J. Ferber Ph.D.

Authors
  1. Nicole Hoppman Ph.D.
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  2. David I. Smith Ph.D.
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  3. Eric W. Klee Ph.D.
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  4. Matthew J. Ferber Ph.D.
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Corresponding author

Correspondence to Nicole Hoppman Ph.D. .

Editor information

Editors and Affiliations

  1. Medicine and Pathology Molecular Genetics Laboratory, Mayo Clinic College of Medicine Department of Laboratory, Rochester, Minnesota, USA

    W. Edward Highsmith, Jr.

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Hoppman, N., Smith, D.I., Klee, E.W., Ferber, M.J. (2014). Next Generation Clinical Diagnostics: The Sequence of Events. In: Highsmith, Jr., W. (eds) Molecular Diagnostics. Molecular and Translational Medicine. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4614-8127-0_13

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  • DOI: https://doi.org/10.1007/978-1-4614-8127-0_13

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