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  • Book
  • © 2013

Next Generation Sequencing Technologies in Medical Genetics

Authors:

  1. C. Alexander Valencia

    1. Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, USA

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    You can also search for this author in PubMed   Google Scholar

  2. M. Ali Pervaiz

    1. WellStar Douglas Hospital, WellStar Health System, Douglasville, USA

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    You can also search for this author in PubMed   Google Scholar

  3. Ammar Husami

    1. Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, USA

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  4. Yaping Qian

    1. Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, USA

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    You can also search for this author in PubMed   Google Scholar

  5. Kejian Zhang

    1. Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, USA

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  • Describes the direct application of NGS sequencing to medicine
  • Focuses on application in molecular diagnostics?
  • Introduces readers to the wealth of next-generation technologies

Part of the book series: SpringerBriefs in Genetics (BRIEFSGENETICS)

Sections

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Table of contents (9 chapters)

  1. Front Matter

    Pages i-xii
    PDF

  2. Advances in Next-Generation–Sequencing Technology

    1. Front Matter

      Pages 1-1
      PDF

    2. Sanger Sequencing Principles, History, and Landmarks

      • C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang
      Pages 3-11

    3. A Survey of Next-Generation–Sequencing Technologies

      • C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang
      Pages 13-24

    4. A Review of DNA Enrichment Technologies

      • 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
      PDF

    2. Application of Next-Generation–Sequencing to the Diagnosis of Genetic Disorders: A Brief Overview

      • C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang
      Pages 35-43

    3. Next-Generation–Sequencing-Based Noninvasive Prenatal Diagnosis

      • C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang
      Pages 45-55

    4. Diagnosis of Inherited Neuromuscular Disorders by Next-Generation–Sequencing

      • C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang
      Pages 57-65

    5. Application of Next-Generation–Sequencing in Hearing Loss Diagnosis

      • C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang
      Pages 67-74

    6. Exome Sequencing as a Discovery and Diagnostic Tool

      • C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang
      Pages 75-86

    7. Challenges of Next-Generation–Sequencing-Based Molecular Diagnostics

      • C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang
      Pages 87-94
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About this book

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.​
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Keywords

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Authors and Affiliations

  • Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, USA

    C. Alexander Valencia, Ammar Husami, Yaping Qian, Kejian Zhang

  • WellStar Douglas Hospital, WellStar Health System, Douglasville, USA

    M. Ali Pervaiz

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Bibliographic Information

  • Book Title: Next Generation Sequencing Technologies in Medical Genetics

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

  • Series Title: SpringerBriefs in Genetics

  • DOI: https://doi.org/10.1007/978-1-4614-9032-6

  • Publisher: Springer New York, NY

  • eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)

  • Copyright Information: C. Alexander Valencia 2013

  • Softcover ISBN: 978-1-4614-9031-9Published: 17 October 2013

  • eBook ISBN: 978-1-4614-9032-6Published: 16 October 2013

  • Series ISSN: 2191-5563

  • Series E-ISSN: 2191-5571

  • Edition Number: 1

  • Number of Pages: XII, 94

  • Number of Illustrations: 5 illustrations in colour

  • Topics: Human Genetics, Gene Function, Biomedicine general

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Access via your institution

Buy it now

eBook USD 59.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 79.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access

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