Skip to main content
SpringerLink
Log in
Book cover

Next Generation Sequencing

Translation to Clinical Diagnostics

  • Book
  • © 2013

Overview

Editors:
  1. Lee-Jun C. Wong

    1. , Molecular and Human Genetics, Baylor College of Medicine, Houston, USA

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  • 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: sn.pub/extras

This is a preview of subscription content, log in via an institution to check access.

Access this book

Log in via an institution
eBook USD 229.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 299.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book USD 299.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access

Licence this eBook for your library

Institutional subscriptions

Table of contents (16 chapters)

  1. Front Matter

    Pages i-xi
    Download chapter PDF

  2. Overview

    1. Front Matter

      Pages 1-1
      Download chapter PDF

    2. History of DNA Sequencing Technologies

      • Lisa D. White
      Pages 3-17

    3. Clinical Molecular Diagnostic Techniques: A Brief Review

      • Megan L. Landsverk, Lee-Jun C. Wong
      Pages 19-36

  4. Application to Clinical Diagnosis

    1. Front Matter

      Pages 113-113
      Download chapter PDF

    2. NGS-Based Clinical Diagnosis of Genetically Heterogeneous Disorders

      • C. A. Valencia, T. A. Sivakumaran, B. T. Tinkle, A. Husami, K. Zhang
      Pages 115-150

    3. Molecular Diagnosis of Congenital Disorders of Glycosylation (CDG)

      • Melanie Jones, Madhuri Hegde
      Pages 151-165

    4. NGS Improves the Diagnosis of X-Linked Intellectual Disability (XLID)

      • Michael J. Friez, Monica J. Basehore
      Pages 167-186

    5. NGS Analysis of Heterogeneous Retinitis Pigmentosa

      • Rui Chen, Feng Wang
      Pages 187-202

    6. Next-Generation Sequencing Analyses of the Whole Mitochondrial Genome

      • Lee-Jun C. Wong
      Pages 203-219

    7. Application of Next-Generation Sequencing of Nuclear Genes for Mitochondrial Disorders

      • Valeria Vasta, Si Houn Hahn
      Pages 221-239

    8. Noninvasive Prenatal Diagnosis Using Next-Generation Sequencing

      • Nancy Bo Yin Tsui, Yuk Ming Dennis Lo
      Pages 241-251

  5. Compliance with CAP/CLIA Regulations

    1. Front Matter

      Pages 253-253
      Download chapter PDF

    2. Guidelines and Approaches to Compliance with Regulatory and Clinical Standards: Quality Control Procedures and Quality Assurance

      • Ira M. Lubin, Lisa Kalman, Amy S. Gargis
      Pages 255-273

    3. Validation of NGS-Based DNA Testing and Implementation of Quality Control Procedures

      • Victor Wei Zhang, Lee-Jun C. Wong
      Pages 275-285
Back to top

Keywords

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.    ​

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: https://doi.org/10.1007/978-1-4614-7001-4

  • 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

Publish with us

Policies and ethics

Back to top

Search

Navigation