Deep Sequencing Data Analysis

The new genetic revolution is fuelled by deep sequencing (or next generation sequencing) apparatuses which, in essence, read billions of nucleotides per reaction. Effectively, when carefully planned, any experimental question which can be translated into

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Noam Shomron Editor

Deep Sequencing Data Analysis

METHODS

IN

MOLECULAR BIOLOGY

Series Editor John M. Walker School of Life Sciences University of Hertfordshire Hatfield, Hertfordshire, AL10 9AB, UK

For further volumes: http://www.springer.com/series/7651

TM

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Deep Sequencing Data Analysis

Edited by

Noam Shomron Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

Editor Noam Shomron Faculty of Medicine Tel Aviv University, Tel Aviv, Israel

ISSN 1064-3745 ISSN 1940-6029 (electronic) ISBN 978-1-62703-513-2 ISBN 978-1-62703-514-9 (eBook) DOI 10.1007/978-1-62703-514-9 Springer New York Heidelberg Dordrecht London Library of Congress Control Number: 2013942649 # Springer Science+Business Media New York 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 Humana Press is a brand of Springer Springer is part of Springer Science+Business Media (www.springer.com)

Preface Sean O’Faolain, an Irish writer (1900–1991), wrote that “there is only one admirable form of the imagination: the imagination that is so intense that it creates a new reality, that it makes things happen.” In the biomedical field we are fortunate to be living in a new technological era in which our imagination is ignited by the new DNA sequencing machines. The quantum leap is so remarkable that a new genetic reality is created. It is now up to us scient