Genome-Wide Association Studies
This book examines the utility of genome-wide association studies (GWAS) in the era of next-generation sequencing and big data, identifies limitations and potential means of overcoming them, and looks to the future of GWAS and what may lay beyond. GWAS ar
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meWide Association Studies
Genome-Wide Association Studies
Tatsuhiko Tsunoda • Toshihiro Tanaka Yusuke Nakamura Editors
Genome-Wide Association Studies
Editors Tatsuhiko Tsunoda Graduate School of Science The University of Tokyo Tokyo, Japan
Toshihiro Tanaka BioResource Research Center Tokyo Medical and Dental University Tokyo, Japan
Yusuke Nakamura Cancer Precision Medicine Center Japanese Foundation for Cancer Research Tokyo, Japan
ISBN 978-981-13-8176-8 ISBN 978-981-13-8177-5 (eBook) https://doi.org/10.1007/978-981-13-8177-5 © Springer Nature Singapore Pte Ltd. 2019 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. This Springer imprint is published by the registered company Springer Nature Singapore Pte Ltd. The registered company address is: 152 Beach Road, #21-01/04 Gateway East, Singapore 189721, Singapore
Preface: History of Genome-Wide Association Study
As we understand from variations in individual’s height, weight, character, or looks, human is diverse in every aspect. From the clinical point of view, it is one form of the expression of human diversity that every patient diagnosed with the same disease does not respond equally to the same therapy. Naturally, these diversities come from complex combination of different genetic and environmental factors. Genetic epidemiology focuses on revealing genetic backgrounds of clinical status including the disease itself, drug responses, or adverse effects of drugs. As a scientific backbone, common disease-common variant hypothesis (CDCV hypothesis) claims that genetic risk of common diseases would be due to variations in the genome with relatively high allele frequencies. The simplest and thorough way to investigate this hypothesis is to examine all the DNA variations, especially SNPs (single nucleotide polymorphisms) in the genome, and this approach is called genome-wide association study (GWA
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