Next Generation Sequencing

Translation to Clinical Diagnostics

  • Lee-Jun C. Wong

Table of contents

  1. Front Matter
    Pages i-xi
  2. Overview

    1. Front Matter
      Pages 1-1
    2. Lisa D. White
      Pages 3-17
    3. Megan L. Landsverk, Lee-Jun C. Wong
      Pages 19-36
  3. The Technologies and Bioinformatics

  4. Application to Clinical Diagnosis

    1. Front Matter
      Pages 113-113
    2. C. A. Valencia, T. A. Sivakumaran, B. T. Tinkle, A. Husami, K. Zhang
      Pages 115-150
    3. Melanie Jones, Madhuri Hegde
      Pages 151-165
    4. Michael J. Friez, Monica J. Basehore
      Pages 167-186
    5. Rui Chen, Feng Wang
      Pages 187-202
    6. Nancy Bo Yin Tsui, Yuk Ming Dennis Lo
      Pages 241-251
  5. Compliance with CAP/CLIA Regulations

About this book

Introduction

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.    ​

Keywords

bioinformatics medical genetics next generation sequencing translational

Editors and affiliations

  • Lee-Jun C. Wong
    • 1
  1. 1., Molecular and Human GeneticsBaylor College of MedicineHoustonUSA

Bibliographic information

  • DOI https://doi.org/10.1007/978-1-4614-7001-4
  • Copyright Information Springer Science+Business Media New York 2013
  • Publisher Name Springer, New York, NY
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-1-4614-7000-7
  • Online ISBN 978-1-4614-7001-4
  • About this book
Industry Sectors
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