Next Generation Clinical Diagnostics: The Sequence of Events

  • Nicole Hoppman
  • David I. Smith
  • Eric W. Klee
  • Matthew J. Ferber
Part of the Molecular and Translational Medicine book series (MOLEMED)


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.


Exome Sequencing Autosomal Recessive Disorder Wilson Disease Draft Sequence Mendelian Disorder 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • Nicole Hoppman
    • 1
  • David I. Smith
    • 2
  • Eric W. Klee
    • 3
  • Matthew J. Ferber
    • 4
  1. 1.Clinical Cytogenetics Laboratory, Department of Laboratory Medicine and PathologyMayo Clinic College of MedicineRochesterUSA
  2. 2.Division of Experimental Pathology, Department of Laboratory Medicine and PathologyMayo Clinic College of MedicineRochesterUSA
  3. 3.Division of Biomedical Informatics, Department of Health Sciences ResearchMayo Clinic College of MedicineRochesterUSA
  4. 4.Molecular Genetics Laboratory, Department of Laboratory Medicine and PathologyMayo Clinic College of MedicineRochesterUSA

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