Disease Gene Identification Methods and Protocols
This volume presents detailed laboratory procedures in an easy to follow format that can be carried out with success by investigators lacking previous exposure to a specific research method. Chapter guide readers through the application of molecular appro
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Johanna K. DiStefano Editor
Disease Gene Identification Methods and Protocols Second Edition
METHODS
IN
MOLECULAR BIOLOGY
Series Editor John M. Walker School of Life and Medical Sciences, University of Hertfordshire, Hatfield, Hertfordshire AL10 9AB, UK
For further volumes: http://www.springer.com/series/7651
Disease Gene Identification Methods and Protocols Second Edition
Edited by
Johanna K. DiStefano Translational Genomics Research Institute, Phoenix, AZ, USA
Editor Johanna K. DiStefano Translational Genomics Research Institute Phoenix, AZ, USA
ISSN 1064-3745 ISSN 1940-6029 (electronic) Methods in Molecular Biology ISBN 978-1-4939-7470-2 ISBN 978-1-4939-7471-9 (eBook) https://doi.org/10.1007/978-1-4939-7471-9 Library of Congress Control Number: 2017964097 © Springer Science+Business Media, LLC 2018 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 Humana Press imprint is published by Springer Nature The registered company is Springer Science+Business Media, LLC The registered company address is: 233 Spring Street, New York, NY 10013, U.S.A.
Preface Completion of the Human Genome Project (HGP) not only yielded a greater appreciation of the role of DNA in shaping species development and evolution, biology, and disease susceptibility, but also helped spawn technological advances that have revolutionized the field of human genetics. Perhaps the most significant impact of this endeavor has been on the manner in which researchers investigate the causes of complex human diseases. Efforts to characterize the genetic variation in the human genome have led directly to the development and application of a diverse range of technological and bioinformatics approaches to identify the roles of both rare and common alleles in complex disease. Such strategies range from genome-wide association studies to whole genome sequencing,
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