Next Generation Sequencing Technologies in Medical Genetics (SpringerBriefs in Genetics) PDF Free Download



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.​


Table of contents

Front Matter….Pages i-xii
Front Matter….Pages 1-1
Sanger Sequencing Principles, History, and Landmarks….Pages 3-11
A Survey of Next-Generation–Sequencing Technologies….Pages 13-24
A Review of DNA Enrichment Technologies….Pages 25-32
Front Matter….Pages 33-33
Application of Next-Generation–Sequencing to the Diagnosis of Genetic Disorders: A Brief Overview….Pages 35-43
Next-Generation–Sequencing-Based Noninvasive Prenatal Diagnosis….Pages 45-55
Diagnosis of Inherited Neuromuscular Disorders by Next-Generation–Sequencing….Pages 57-65
Application of Next-Generation–Sequencing in Hearing Loss Diagnosis….Pages 67-74
Exome Sequencing as a Discovery and Diagnostic Tool….Pages 75-86
Challenges of Next-Generation–Sequencing-Based Molecular Diagnostics….Pages 87-94

Product information

Publisher‏:‎Springer; 2013th edition (October 17, 2013)
Paperback‏:‎106 pages
Item Weight‏:‎4.33 pounds
Dimensions‏:‎6.1 x 0.26 x 9.25 inches


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