Copy Number Variants Methods and Protocols
This volume offers detailed step-by-step instructions to allow beginners and experts alike to run appropriate copy number variants (CNV) detection software on a dataset of choice and discern between false positive noise and true positive CNV signals. Chap
- PDF / 6,791,199 Bytes
- 205 Pages / 504.63 x 737.01 pts Page_size
- 53 Downloads / 243 Views
Derek M. Bickhart Editor
Copy Number Variants Methods and Protocols
Methods
in
M o l e c u l a r B i o lo g y
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
Copy Number Variants Methods and Protocols
Edited by
Derek M. Bickhart Research Microbiologist/Bioinformatician, USDA ARS DFRC, Madison, WI, USA
Editor Derek M. Bickhart Research Microbiologist/Bioinformatician USDA ARS DFRC Madison, WI, USA
ISSN 1064-3745 ISSN 1940-6029 (electronic) Methods in Molecular Biology ISBN 978-1-4939-8665-1 ISBN 978-1-4939-8666-8 (eBook) https://doi.org/10.1007/978-1-4939-8666-8 Library of Congress Control Number: 2018948178 © Springer Science+Business Media, LLC, part of Springer Nature 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 the registered company Springer Science+Business Media, LLC part of Springer Nature. The registered company address is: 233 Spring Street, New York, NY 10013, U.S.A.
Preface The detection of DNA copy number variants (CNVs) within the genomes of individuals has fascinated researchers since the foundation of modern genomics. CNVs represent large insertions, duplications, and deletions of DNA sequence in an individual’s genome that range in size from 50 base pairs to millions of bases in size. These duplications and deletions segregate in the population, waxing and waning in frequency due to selective pressures or genetic drift. Their influence on the phenotype of the individual that harbors them can range from positive to deleterious; however, the majority of CNVs occur within the intergenic space of eukaryotic genomes and are therefore predicted to have neutral—or minor—effects. When CNVs do overlap with gene regi
Data Loading...
