Next Generation Sequencing

Translation to Clinical Diagnostics

Editors: Wong, Lee-Jun C. (Ed.)

  • 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
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eBook $189.00
price for USA (gross)
  • ISBN 978-1-4614-7001-4
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover $209.00
price for USA
  • ISBN 978-1-4614-7000-7
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
Softcover n/a
  • ISBN 978-1-4899-8549-1
  • Free shipping for individuals worldwide
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.    ​

Table of contents (16 chapters)

  • History of DNA Sequencing Technologies

    White, Lisa D.

    Pages 3-17

  • Clinical Molecular Diagnostic Techniques: A Brief Review

    Landsverk, Megan L. (et al.)

    Pages 19-36

  • Methods of Gene Enrichment and Massively Parallel Sequencing Technologies

    Cui, Hong

    Pages 39-58

  • Sequence Alignment, Analysis, and Bioinformatic Pipelines

    Yu, Fuli (et al.)

    Pages 59-77

  • Protein Structural Based Analysis for Interpretation of Missense Variants at the Genomics Era: Using MNGIE Disease as an Example

    Zhang, Victor Wei

    Pages 79-96

Buy this book

eBook $189.00
price for USA (gross)
  • ISBN 978-1-4614-7001-4
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover $209.00
price for USA
  • ISBN 978-1-4614-7000-7
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
Softcover n/a
  • ISBN 978-1-4899-8549-1
  • Free shipping for individuals worldwide
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Bibliographic Information

Bibliographic Information
Book Title
Next Generation Sequencing
Book Subtitle
Translation to Clinical Diagnostics
Editors
  • Lee-Jun C. Wong
Copyright
2013
Publisher
Springer-Verlag New York
Copyright Holder
Springer Science+Business Media New York
eBook ISBN
978-1-4614-7001-4
DOI
10.1007/978-1-4614-7001-4
Hardcover ISBN
978-1-4614-7000-7
Softcover ISBN
978-1-4899-8549-1
Edition Number
1
Number of Pages
XI, 302
Topics