Next Generation Sequencing for Next Generation Diagnostics and Therapy

  • Marianna GaronziEmail author
  • Cesare Centomo
  • Massimo Delledonne


DNA sequencing technologies are evolving at a prodigious rate. First-generation approaches have now been largely replaced by second-generation technologies (still known as “next generation sequencing” (NGS) even though they are now current and commonplace), and third-generation technologies (sometimes called “next-next generation sequencing”) are starting to arrive. This has led to global boom in whole genome or exome sequencing, boosting the discovery of sequence variants associated with disease that will eventually be translated into new diagnostic, prognostic, and therapeutic targets for individual patients in “precision medicine.” Acknowledgement of disease predisposition and specific therapeutic behavior for each individual addresses a more preventive approach. Adoption of such novel means represents an anticipation-relevant outcome as it can affect our healthcare on many different levels, ranging from a simple lifestyle adjustment to a well-defined clinical guideline. In this chapter we summarize current and emerging sequencing technologies for clinical applications, and some of the challenges that lie ahead.


Precision medicine Genomics Sequencing technologies 


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Copyright information

© Springer International Publishing Switzerland 2017

Authors and Affiliations

  • Marianna Garonzi
    • 1
    Email author
  • Cesare Centomo
    • 1
  • Massimo Delledonne
    • 1
  1. 1.Department of BiotechnologyUniversity of VeronaVeronaItaly

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