Next Generation Sequencing Technologies in Medical Genetics

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 o

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C. Alexander Valencia M. Ali Pervaiz Ammar Husami Yaping Qian Kejian Zhang

Next Generation Sequencing Technologies in Medical Genetics

123

SpringerBriefs in Genetics

For further volumes: http://www.springer.com/series/8923

C. Alexander Valencia • M. Ali Pervaiz Ammar Husami • Yaping Qian • Kejian Zhang

Next Generation Sequencing Technologies in Medical Genetics

C. Alexander Valencia Division of Human Genetics Cincinnati Children’s Hospital Medical Center Cincinnati, OH, USA Ammar Husami Division of Human Genetics Cincinnati Children’s Hospital Medical Center Cincinnati, OH, USA

M. Ali Pervaiz WellStar Douglas Hospital WellStar Health System Douglasville, GA, USA Yaping Qian Division of Human Genetics Cincinnati Children’s Hospital Medical Center Cincinnati, OH, USA

Kejian Zhang Division of Human Genetics Cincinnati Children’s Hospital Medical Center Cincinnati, OH, USA

ISSN 2191-5563 ISSN 2191-5571 (electronic) ISBN 978-1-4614-9031-9 ISBN 978-1-4614-9032-6 (eBook) DOI 10.1007/978-1-4614-9032-6 Springer New York Heidelberg Dordrecht London Library of Congress Control Number: 2013949287 © C. Alexander Valencia 2013 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. Exempted from this legal reservation are brief excerpts in connection with reviews or scholarly analysis or material supplied specifically for the purpose of being entered and executed on a computer system, for exclusive use by the purchaser of the work. Duplication of this publication or parts thereof is permitted only under the provisions of the Copyright Law of the Publisher’s location, in its current version, and permission for use must always be obtained from Springer. Permissions for use may be obtained through RightsLink at the Copyright Clearance Center. Violations are liable to prosecution under the respective Copyright Law. 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. While the advice and information in this book are believed to be true and accurate at the date of publication, neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omissions that may be made. The publisher makes no warranty, express or implied, with respect to the material contained herein. Printed on acid-free paper Springer is part of Springer Science+Business Media (www.springer.com)

Preface

The purpose of this book is to serve as an introduction to those that want to learn