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Disease Gene Identification

Methods and Protocols

  • Book
  • © 2011

Overview

Editors:
  1. Johanna K. DiStefano

    1. Research Institute, Diabetes, Cardiovascular, &, Translational Genomics, Phoenix, USA

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  • Presents detailed laboratory procedures in an easy-to-follow format, accessible to graduate students, post-doctoral researchers, and bench scientists
  • Features readily reproducible protocols along with tips on troubleshooting
  • Feeds upon expert personal experience to ensure successful implementation
  • Includes supplementary material: sn.pub/extras

Part of the book series: Methods in Molecular Biology (MIMB, volume 700)

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Table of contents (20 protocols)

  1. Front Matter

    Pages i-xii
    Download chapter PDF

  2. Introduction

    1. Front Matter

      Pages 1-1
      Download chapter PDF

    2. Technological Issues and Experimental Design of Gene Association Studies

      • Johanna K. DiStefano, Darin M. Taverna
      Pages 3-16

    3. Statistical Issues in Gene Association Studies

      • Richard M. Watanabe
      Pages 17-36

    4. Identification of Causal Sequence Variants of Disease in the Next Generation Sequencing Era

      • Christopher B. Kingsley
      Pages 37-46

  3. Methods for Gene Identification

    1. Front Matter

      Pages 47-47
      Download chapter PDF

    2. Microarray-Based Genome-Wide Association Studies Using Pooled DNA

      • Szabolcs Szelinger, John V. Pearson, David W. Craig
      Pages 49-60

    3. Medium-Throughput SNP Genotyping Using Mass Spectrometry: Multiplex SNP Genotyping Using the iPLEX® Gold Assay

      • Meredith P. Millis
      Pages 61-76

    4. Targeted SNP Genotyping Using the TaqMan® Assay

      • Dorit Schleinitz, Johanna K. DiStefano, Peter Kovacs
      Pages 77-87

    5. Bar-Coded, Multiplexed Sequencing of Targeted DNA Regions Using the Illumina Genome Analyzer

      • Szabolcs Szelinger, Ahmet Kurdoglu, David W. Craig
      Pages 89-104

  4. Functional Characterization of Susceptibility Alleles and Loci

    1. Front Matter

      Pages 105-105
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    2. Site-Directed Mutagenesis

      • Patricia E. Carrigan, Petek Ballar, Sukru Tuzmen
      Pages 107-124

    3. Gene Expression Profiling of Tissues and Cell Lines: A Dual-Color Microarray Method

      • Sonsoles Shack
      Pages 125-143

    4. Methods for MicroRNA Microarray Profiling

      • Aarati R. Ranade, Glen J. Weiss
      Pages 145-152

    5. Allelic Expression Profiling to Dissect Genome-Wide Association Study Signals

      • Jonathan D. Gruber
      Pages 153-170

    6. Quantitative Polymerase Chain Reaction Using the Comparative C q Method

      • Kimberly Yeatts
      Pages 171-184

    7. Genomic Analysis by Oligonucleotide Array Comparative Genomic Hybridization Utilizing Formalin-Fixed, Paraffin-Embedded Tissues

      • Stephanie J. Savage, Galen Hostetter
      Pages 185-198

    8. RNA Mapping Protocols: Northern Blot and Amplification of cDNA Ends

      • Maria Lucrecia Alvarez, Mahtab Nourbakhsh
      Pages 199-220

    9. High-Content RNA Interference Assay: Analysis of Tau Hyperphosphorylation as a Generic Paradigm

      • RiLee H. Robeson, Travis Dunckley
      Pages 221-238

  5. Alternative Approaches

    1. Front Matter

      Pages 239-239
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Keywords

About this book

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 human diseases. In Disease Gene Identification: Methods and Protocols, expert researchers in the field provide up-to-date molecular methodologies used in the process of identifying a disease gene, from the initial stage of study design to the next stage of preliminary locus identification, and ending with stages involved in target characterization and validation. As a volume in the highly successful Methods in Molecular Biology™ series, chapters contain brief introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and detailed tips on troubleshooting and avoiding known pitfalls. Authoritative and essential, Disease Gene Identification: Methods and Protocols seeks to aid scientists striving toward the identification and characterization of the many disease-related genes, which may someday pave the way for more accurate and improved methods of disease diagnosis as well as vital strategies for disease treatment and prevention.

Reviews

From the reviews:

“This is an excellent resource for innovative approaches to the identification of genes contributing to complex human diseases. … presenting detailed laboratory procedures in an easy-to-follow format that can be carried out successfully by competent experts lacking exposure to a specific research method. … will be useful for clinicians such as oncologists interested in learning about gene identification. … an excellent resource for graduate students, postdoctoral researchers, bench scientists, clinical oncologists, and hematologists interested in the fields of molecular genetics and molecular biology.” (Omer Iqbal, Doody’s Review Service, June, 2011)

Editors and Affiliations

  • Research Institute, Diabetes, Cardiovascular, &, Translational Genomics, Phoenix, USA

    Johanna K. DiStefano

Bibliographic Information

  • Book Title: Disease Gene Identification

  • Book Subtitle: Methods and Protocols

  • Editors: Johanna K. DiStefano

  • Series Title: Methods in Molecular Biology

  • DOI: https://doi.org/10.1007/978-1-61737-954-3

  • Publisher: Humana Totowa, NJ

  • eBook Packages: Springer Protocols

  • Copyright Information: Springer Science+Business Media, LLC 2011

  • Hardcover ISBN: 978-1-61737-953-6Published: 10 January 2011

  • Softcover ISBN: 978-1-4939-6147-4Published: 23 August 2016

  • eBook ISBN: 978-1-61737-954-3Published: 04 January 2011

  • Series ISSN: 1064-3745

  • Series E-ISSN: 1940-6029

  • Edition Number: 1

  • Number of Pages: XII, 312

  • Topics: Human Genetics, Gene Expression

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