Field Guidelines for Genetic Experimental Designs in High-Throughput Sequencing

High throughput sequencing (HTS) technologies have conquered the genomics and epigenomics worlds. The applications of HTS methods are wide, and can be used to sequence everything from whole or partial genomes, transcriptomes, non-coding RNAs, ribosome pro

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uidelines for Genetic Experimental Designs in High-Throughput Sequencing

Field Guidelines for Genetic Experimental Designs in High-Throughput Sequencing

Ana M. Aransay • José Luis Lavín Trueba Editors

Field Guidelines for Genetic Experimental Designs in High-Throughput Sequencing

Editors Ana M. Aransay Genome Analysis Platform CIC bioGUNE Derio, Spain

José Luis Lavín Trueba Genome Analysis Platform CIC bioGUNE Derio, Spain

Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd) Madrid, Spain

ISBN 978-3-319-31348-1 ISBN 978-3-319-31350-4 DOI 10.1007/978-3-319-31350-4

(eBook)

Library of Congress Control Number: 2016940242 © Springer International Publishing Switzerland 2016 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. Printed on acid-free paper This Springer imprint is published by Springer Nature The registered company is Springer International Publishing AG Switzerland

Preface

High-throughput sequencing (HTS), also named next-generation sequencing (NGS) or massive parallel sequencing (MPS), is an amazingly speedy evolving world. Since 2005, when the first HTS equipment was released to the market by 454 Life Sciences, there have been dozens of companies developing a variety of methods that offer distinct characteristics, and therefore, each protocol should be applied wisely. Being aware of the wide range and complexity of the reported HTS strategies, we observed that there is a lack of bibliographic support when scientists need to choose the most suitable methodology or combination of platforms and to define their experimental designs to achieve unambiguous aims. Genomics core facilities can give limited advice on which technology fits one’s purposes and the number of cloud-based HTS data analysis pipelines, to process output raw data in a standard mode, is rapidly increasing. Ideally, scientists that request this sort of services should have clear clue questions concerning wet-lab procedures and data analysis. Thus, the purpose of