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Next Generation Sequencing

Translation to Clinical Diagnostics

  • Book
  • © 2013


  • Will cover topics of these next generation sequencing applications, including potential limitations and expanded application in the future

  • Readers will learn current technologies, various gene enrichment methods and massively parallel sequencing platforms, and the application of these technologies

  • Includes a comparison of different methods used for target gene enrichment and the various sequencing platforms

  • Includes supplementary material:

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About this book

In recent years, owing to the fast development of a variety of sequencing technologies in the post human genome project era, sequencing analysis of a group of target genes, entire protein coding regions of the human genome, and the whole human genome has become a reality.  Next Generation Sequencing (NGS) or Massively Parallel Sequencing (MPS) technologies offers a way to screen for mutations in many different genes in a cost and time efficient manner by deep coverage of the target sequences.  This novel technology has now been applied to clinical diagnosis of Mendelian disorders of well characterized or undefined diseases, discovery of new disease genes, noninvasive prenatal diagnosis using maternal blood, and population based carrier testing of severe autosomal recessive disorders.  This book covers topics of these applications, including potential limitations and expanded application in the future.    ​

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Table of contents (16 chapters)

  1. Overview

  2. Application to Clinical Diagnosis

  3. Compliance with CAP/CLIA Regulations

Editors and Affiliations

  • , Molecular and Human Genetics, Baylor College of Medicine, Houston, USA

    Lee-Jun C. Wong

Bibliographic Information

  • Book Title: Next Generation Sequencing

  • Book Subtitle: Translation to Clinical Diagnostics

  • Editors: Lee-Jun C. Wong

  • DOI:

  • Publisher: Springer New York, NY

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

  • Copyright Information: Springer Science+Business Media New York 2013

  • Hardcover ISBN: 978-1-4614-7000-7Published: 31 May 2013

  • Softcover ISBN: 978-1-4899-8549-1Published: 09 July 2015

  • eBook ISBN: 978-1-4614-7001-4Published: 31 May 2013

  • Edition Number: 1

  • Number of Pages: XI, 302

  • Topics: Human Genetics, Bioinformatics, Biomedicine general

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