Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders
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,
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Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders
Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders
Lee-Jun C. Wong Editor
Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders
Editor Lee-Jun C. Wong Molecular Diagnostic Laboratory Baylor College of Medicine Houston, Texas, USA
ISBN 978-3-319-56416-6 ISBN 978-3-319-56418-0 (eBook) DOI 10.1007/978-3-319-56418-0 Library of Congress Control Number: 2017939356 © Springer International Publishing AG 2017 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Printed on acid-free paper This Springer imprint is published by Springer Nature The registered company is Springer International Publishing AG The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland
Preface
Recent development of high-throughput next generation sequencing (NGS) technology has transformed the way DNA-based molecular diagnostic testing is performed in clinical laboratories. In the past few years, clinically validated NGS has been applied to routine molecular diagnosis of human genetic diseases. In this book, we review the outcome of NGS in clinical practice. Pitfalls of traditional PCR-based Sanger sequencing can be overcome by NGS. This book first reviews the technologies of NGS and their advantages over traditional Sanger sequencing and why NGS has become the new gold standard for clinical molecular diagnosis. In addition, clinically validated deep NGS can accurately detect not only single nucleotide variants (SNVs) but also copy number variants (CNVs). The ability to simultaneously detect and quantify SNVs and CNVs in multiple genes makes NGS an ideal comprehensive approach for molecular diagnosis. Applications of NGS to genetic analysis of various disease areas, such as metabolic disorders, retinal diseas
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