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Clinical Relevance of Genetic Factors in Pulmonary Diseases pp 333–344Cite as

Nucleic Acid Amplification-Based Diagnostics for Pulmonary Diseases: What Is the Current State and Perspectives of Nucleic Acid Amplification Technologies Used in Diagnostics Associated with Pulmonary Diseases?

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Part of the Respiratory Disease Series: Diagnostic Tools and Disease Managements book series (RDSDTDM)

Abstract

Rapid advances of genomic technologies in medical sciences resulted in growth of identified molecular biomarkers, including those required for proper drug administration and therapy selection in pulmonary diseases. While high-throughput technologies are powerful tool for wide screening, targeted real-time monitoring using nucleic acid amplification is still the most important method for DNA and RNA detection widely employed in clinical diagnostics. In this chapter, we overview the key nucleic acid amplification platforms successfully used in the clinical diagnostics, including that associated with pulmonary diseases, and briefly outline their advantages and pitfalls. We further focus on the specific isothermal amplification technology SmartAmp and Eprobes developed by RIKEN outlining its implementation in quick and robust detection of several clinically important SNP and cancer-associated somatic mutations. Finally, we describe the further potential of expansion of utilization of Eprobes platform for direct protein detection for clinical diagnostic needs.

Keywords

  • Nucleic acid amplification
  • Clinical diagnostics
  • Companion diagnostics

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Author information

Authors and Affiliations

  1. RIKEN Preventive Medicine and Diagnosis Innovation Program, Kanagawa, Japan

    Oleg Gusev & Yoshihide Hayashizaki

  2. KFU-RIKEN Translational Genomics Unit, RIKEN Innovation Center, Kanagawa, Japan

    Oleg Gusev

  3. Institute of Fundamental Medicine and Biology, Kazan Federal University, Kazan, Russia

    Oleg Gusev

  4. Genetic Diagnosis Technology Unit, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan

    Kengo Usui

Authors
  1. Oleg Gusev
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  2. Yoshihide Hayashizaki
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  3. Kengo Usui
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Corresponding author

Correspondence to Kengo Usui .

Editor information

Editors and Affiliations

  1. Yokohama City University, Yokohama, Kanagawa, Japan

    Prof. Takeshi Kaneko

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Gusev, O., Hayashizaki, Y., Usui, K. (2018). Nucleic Acid Amplification-Based Diagnostics for Pulmonary Diseases: What Is the Current State and Perspectives of Nucleic Acid Amplification Technologies Used in Diagnostics Associated with Pulmonary Diseases?. In: Kaneko, T. (eds) Clinical Relevance of Genetic Factors in Pulmonary Diseases. Respiratory Disease Series: Diagnostic Tools and Disease Managements. Springer, Singapore. https://doi.org/10.1007/978-981-10-8144-6_18

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  • DOI: https://doi.org/10.1007/978-981-10-8144-6_18

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  • Publisher Name: Springer, Singapore

  • Print ISBN: 978-981-10-8143-9

  • Online ISBN: 978-981-10-8144-6

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