Disease Gene Identification Methods and Protocols
Recent efforts to characterize genetic variation in the human genome, coupled with the rapidly developing field of genomics, have lead directly to the development of new and innovative approaches to the identification of genes contributing to complex huma
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Molecular Biology™
Series Editor John M. Walker School of Life Sciences University of Hertfordshire Hatfield, Hertfordshire, AL10 9AB, UK
For other titles published in this series, go to www.springer.com/series/7651
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Disease Gene Identification Methods and Protocols
Edited by
Johanna K. DiStefano Diabetes, Cardiovascular, and Metabolic Diseases Division, Translational Genomics Research Institute, Phoenix, AZ, USA
Editor Johanna K. DiStefano, Ph.D. Diabetes, Cardiovascular, and Metabolic Diseases Division Translational Genomics Research Institute Phoenix, AZ USA [email protected]
ISSN 1064-3745 e-ISSN 1940-6029 ISBN 978-1-61737-953-6 e-ISBN 978-1-61737-954-3 DOI 10.1007/978-1-61737-954-3 Springer New York Dordrecht Heidelberg London © Springer Science+Business Media, LLC 2011 All rights reserved. This work may not be translated or copied in whole or in part without the written permission of the publisher (Humana Press, c/o Springer Science+Business Media, LLC, 233 Spring Street, New York, NY 10013, USA), except for brief excerpts in connection with reviews or scholarly analysis. Use in connection with any form of information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed is forbidden. The use in this publication of trade names, trademarks, service marks, and similar terms, even if they are not identified as such, is not to be taken as an expression of opinion as to whether or not they are subject to proprietary rights. Printed on acid-free paper Humana Press is part of Springer Science+Business Media (www.springer.com)
Dedication This book is dedicated in memory of Stephanie Savage, a colleague and friend who touched the hearts of many and devoted her work to improving the lives of others.
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Preface Completion of the Human Genome Project (HGP) has provided us with a greatly enhanced understanding of human genetics, including a greater appreciation of how DNA shapes species development and evolution, biology, and disease susceptibility. The HGP has also affected the development and/or maturation of research disciplines such as genome annotation, knowledge of genome evolution and segmental duplication, and comparative genomics, among others. Yet, perhaps the greatest impact of the HGP has been on the manner in which researchers investigate the causes of complex human diseases. Completion of the HGP gave rise to the development of efforts to characterize genetic variation in the human genome, which has lead directly to the application of whole genome association studies to identify common alleles which contribute to complex disease risk. Efforts to identify genetic mutations underlying highly penetrant diseases have been widely successful due to the facts that (1) a single mutation is enough to cause the disease (i.e., monogenic) and (2) the mutation is inherited in a simple manner between generations in affected families. To date, more than a thousand genes for such disorders
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