Next Generation Sequencing: Translation to Clinical Diagnostics

✍ Scribed by Lisa D. White Ph.D. (auth.), Lee-Jun C. Wong (eds.)

Publisher: Springer-Verlag New York
Year: 2013
Tongue: English
Leaves: 301
Edition: 1
Category: Library

No coin nor oath required. For personal study only.

✦ Synopsis

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

Front Matter....Pages i-xi
Front Matter....Pages 1-1
History of DNA Sequencing Technologies....Pages 3-17
Clinical Molecular Diagnostic Techniques: A Brief Review....Pages 19-36
Front Matter....Pages 37-37
Methods of Gene Enrichment and Massively Parallel Sequencing Technologies....Pages 39-58
Sequence Alignment, Analysis, and Bioinformatic Pipelines....Pages 59-77
Protein Structural Based Analysis for Interpretation of Missense Variants at the Genomics Era: Using MNGIE Disease as an Example....Pages 79-96
Algorithms and Guidelines for Interpretation of DNA Variants....Pages 97-112
Front Matter....Pages 113-113
NGS-Based Clinical Diagnosis of Genetically Heterogeneous Disorders....Pages 115-150
Molecular Diagnosis of Congenital Disorders of Glycosylation (CDG)....Pages 151-165
NGS Improves the Diagnosis of X-Linked Intellectual Disability (XLID)....Pages 167-186
NGS Analysis of Heterogeneous Retinitis Pigmentosa....Pages 187-202
Next-Generation Sequencing Analyses of the Whole Mitochondrial Genome....Pages 203-219
Application of Next-Generation Sequencing of Nuclear Genes for Mitochondrial Disorders....Pages 221-239
Noninvasive Prenatal Diagnosis Using Next-Generation Sequencing....Pages 241-251
Front Matter....Pages 253-253
Guidelines and Approaches to Compliance with Regulatory and Clinical Standards: Quality Control Procedures and Quality Assurance....Pages 255-273
Validation of NGS-Based DNA Testing and Implementation of Quality Control Procedures....Pages 275-285
Frequently Asked Questions About the Clinical Utility of Next-Generation Sequencing in Molecular Diagnosis of Human Genetic Diseases....Pages 287-299
Back Matter....Pages 301-302

✦ Subjects

Human Genetics; Bioinformatics; Biomedicine general

📜 SIMILAR VOLUMES

Next Generation Sequencing Based Clinica

📁 Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders

✍ Lee-Jun C. Wong (eds.) 📂 Library 📅 2017 🏛 Springer International Publishing 🌐 English

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 fut

Next-Generation Sequencing & Molecular D

📁 Next-Generation Sequencing & Molecular Diagnostics

✍ Dimitrios H Roukos 📂 Library 📅 2013 🏛 Future Medicine Ltd 🌐 English

In striving to improve healthcare, the field of genome sciences is rapidly evolving into clinical genomics. Changes in the structure, regulation and function of the human genome define disease pathogenesis. Fast and accurate DNA sequencing at a genome-wide scale, at a relatively low cost, has revolu

Clinical Applications for Next-Generatio

📁 Clinical Applications for Next-Generation Sequencing

✍ Demkow, Urszula; Ploski, Rafal 📂 Library 📅 2016 🏛 Academic Press 🌐 English

Clinical Applications for Next Generation Sequencing provides readers with an outstanding postgraduate resource to learn about the translational use of NGS in clinical environments. Rooted in both medical genetics and clinical medicine, the book fills the gap between state-of-the-ar

Next Generation Sequencing Technologies

📁 Next Generation Sequencing Technologies in Medical Genetics

✍ C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang ( 📂 Library 📅 2013 🏛 Springer-Verlag New York 🌐 English

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 seq

Next Generation Sequencing Technologies

📁 Next Generation Sequencing Technologies in Medical Genetics

✍ C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang 📂 Library 📅 2013 🏛 Springer 🌐 English

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 sequen

Bioinformatics Methods: From Omics to Ne

📁 Bioinformatics Methods: From Omics to Next Generation Sequencing

✍ Shili Lin, Denise Scholtens, Sujay Datta 📂 Library 📅 2022 🏛 CRC Press/Chapman & Hall 🌐 English

The past three decades have witnessed an explosion of what is now referred to as high-dimensional `omics' data. Bioinformatics Methods: From Omics to Next Generation Sequencing describes the statistical methods and analytic frameworks that are best equipped to interpret these complex data and how th