Next Generation Sequencing Technologies in Medical Genetics, 1st Edition

  • Published By:
  • ISBN-10: 1461490324
  • ISBN-13: 9781461490326
  • DDC: 572.8633
  • Grade Level Range: College Freshman - College Senior
  • 94 Pages | eBook
  • Original Copyright 2013 | Published/Released August 2014
  • This publication's content originally published in print form: 2013

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This book introduces readers to Next Generation Sequencing applications in medical genetics. The authors discuss the direct application of next-generation sequencing to medicine, specifically, laboratory medicine or molecular diagnostics. The first part of the book contains chapters on sanger sequencing, NGS technologies, targeted-amplification and capture, and exome sequencing. The second part of the book focuses on genetic disorders diagnoses by NGS, prenatal diagnosis, muscular dystrophies, mitochondrial disorders diagnosis, and challenges in molecular diagnosis. Recent developments and potential future trends in NGS sequencing applications are highlighted, as well.‚Äč

Table of Contents

Front Cover.
Other Front Matter.
Title Page.
Copyright Page.
1: Advances in Next-Generation–Sequencing Technology.
2: Sanger Sequencing Principles, History, and Landmarks.
3: A Survey of Next-Generation–Sequencing Technologies.
4: A Review of DNA Enrichment Technologies.
5: Clinical Applications of Next-Generation–Sequencing.
6: Application of Next-Generation–Sequencing to the Diagnosis of Genetic Disorders: A Brief Overview.
7: Next-Generation–Sequencing-Based Noninvasive Prenatal Diagnosis.
8: Diagnosis of Inherited Neuromuscular Disorders by Next-Generation–Sequencing.
9: Application of Next-Generation–Sequencing in Hearing Loss Diagnosis.
10: Exome Sequencing as a Discovery and Diagnostic Tool.
11: Challenges of Next-Generation–Sequencing-Based Molecular Diagnostics.