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Next Generation Sequencing Technologies in Medical Genetics

  • C. Alexander Valencia
  • M. Ali Pervaiz
  • Ammar Husami
  • Yaping Qian
  • Kejian Zhang

Part of the SpringerBriefs in Genetics book series (BRIEFSGENETICS)

Table of contents

  1. Front Matter
    Pages i-xii
  2. Advances in Next-Generation–Sequencing Technology

    1. Front Matter
      Pages 1-1
    2. C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang
      Pages 3-11
    3. C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang
      Pages 13-24
    4. C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang
      Pages 25-32
  3. Clinical Applications of Next-Generation–Sequencing

    1. Front Matter
      Pages 33-33
    2. C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang
      Pages 35-43
    3. C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang
      Pages 45-55
    4. C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang
      Pages 57-65
    5. C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang
      Pages 67-74
    6. C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang
      Pages 75-86
    7. C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang
      Pages 87-94

About this book

Introduction

This book introduces readers to Next Generation Sequencing applications in medical genetics. The authors discuss the direct application of next-generation sequencing to medicine, specifically, laboratory medicine or molecular diagnostics. The first part of the book contains chapters on sanger sequencing, NGS technologies, targeted-amplification and capture, and exome sequencing. The second part of the book focuses on genetic disorders diagnoses by NGS, prenatal diagnosis, muscular dystrophies, mitochondrial disorders diagnosis, and challenges in molecular diagnosis. Recent developments and potential future trends in NGS sequencing applications are highlighted, as well.​

Keywords

Genomics Molecular Dianostics NGS Technology Next Generation Sequencing

Authors and affiliations

  • C. Alexander Valencia
    • 1
  • M. Ali Pervaiz
    • 2
  • Ammar Husami
    • 3
  • Yaping Qian
    • 4
  • Kejian Zhang
    • 5
  1. 1.Division of Human GeneticsCincinnati Children's Hospital Medical CenterCincinnatiUSA
  2. 2.WellStar Douglas HospitalWellStar Health SystemDouglasvilleUSA
  3. 3.Division of Human GeneticsCincinnati Children's Hospital Medical CenterCincinnatiUSA
  4. 4.Division of Human GeneticsCincinnati Children's Hospital Medical CenterCincinnatiUSA
  5. 5.Division of Human GeneticsCincinnati Children's Hospital Medical CenterCincinnatiUSA

Bibliographic information

  • DOI https://doi.org/10.1007/978-1-4614-9032-6
  • Copyright Information C. Alexander Valencia 2013
  • Publisher Name Springer, New York, NY
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-1-4614-9031-9
  • Online ISBN 978-1-4614-9032-6
  • Series Print ISSN 2191-5563
  • Series Online ISSN 2191-5571
  • Buy this book on publisher's site
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