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Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders

  • Book
  • © 2017

Overview

  • Will cover the diagnostic yields of various Next Generation Sequencing applications
  • Readers will learn the advantages and disadvantages of panels and whole exome sequencing as it relates to human genetic disease
  • Includes a look at future medically relevant exomes
  • Includes supplementary material: sn.pub/extras

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Table of contents (17 chapters)

Keywords

About this book

Next Generation Sequencing technology has been applied to clinical diagnoses in the past three to five years using various approaches, including target gene panels and whole exomes.  The purpose of this book is to summarize the experiences, the results, advantages and disadvantages, along with future development in the area of NGS-based molecular diagnosis. This up-to-date volume  will not only provide the readers working with Next Generation Sequencing the basics on how to  apply the technology to molecular diagnosis, but will present the results and experience of practical application.

Editors and Affiliations

  • Molecular Diagnostic Laboratory, Baylor College of Medicine, Houston, USA

    Lee-Jun C. Wong

About the editor

Dr. Wong received her BS in Biochemistry from National Taiwan University and her Ph.D. in Chemistry from the Ohio State University. She did her postdoctoral training in biochemical sciences at Fox Chase Cancer Center in Philadelphia, with the Nobel Laureate Dr. Irwin Rose, and at Princeton University with Dr. Bruce Alberts, the past president of the US National Academy of Science. She became involved in genetics and received further training at Baylor College of Medicine. She is certified by the American Board of Medical Genetics in the specialty areas of Clinical Molecular Genetics and Biochemical Genetics. Dr. Wong served as the Director of the Molecular Diagnostic Laboratory at Childrens Hospital Los Angeles and Georgetown University for 10 years before rejoining Baylor College of Medicine as a professor in the Department of Molecular and Human Genetics. There she heads the Mitochondrial/Metabolic Molecular Diagnostic Laboratory. Dr. Wong's research focuses on mitochondrialgenetics and function in disease, aging, and cancer. She has published over 250 peer-reviewed articles, 13 book chapters, and edited 3 books.

Bibliographic Information

  • Book Title: Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders

  • Editors: Lee-Jun C. Wong

  • DOI: https://doi.org/10.1007/978-3-319-56418-0

  • Publisher: Springer Cham

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

  • Copyright Information: Springer International Publishing AG 2017

  • Hardcover ISBN: 978-3-319-56416-6Published: 22 May 2017

  • Softcover ISBN: 978-3-319-85909-5Published: 08 August 2018

  • eBook ISBN: 978-3-319-56418-0Published: 15 May 2017

  • Edition Number: 1

  • Number of Pages: VIII, 364

  • Number of Illustrations: 6 b/w illustrations, 17 illustrations in colour

  • Topics: Microbial Genetics and Genomics, Human Genetics, Biostatistics

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