Disease Gene Identification

Methods and Protocols

  • Johanna K.  DiStefano

Part of the Methods in Molecular Biology book series (MIMB, volume 1706)

Table of contents

  1. Front Matter
    Pages i-x
  2. Introduction

    1. Front Matter
      Pages 1-1
    2. Johanna K. DiStefano, Christopher B. Kingsley
      Pages 3-16
    3. Satish Kumar, John Blangero, Joanne E. Curran
      Pages 17-38
    4. Taylor M. Benson, Fatjon Leti, Johanna K. DiStefano
      Pages 39-51
    5. Rebecca M. Davidson, L. Elaine Epperson
      Pages 77-90
  3. Methods for Gene Identification

    1. Front Matter
      Pages 111-111
    2. Jonathan J. Keats, Lori Cuyugan, Jonathan Adkins, Winnie S. Liang
      Pages 151-161
    3. Winnie S. Liang, Kristi Stephenson, Jonathan Adkins, Austin Christofferson, Adrienne Helland, Lori Cuyugan et al.
      Pages 163-174
    4. Rupesh Kanchi Ravi, Kendra Walton, Mahdieh Khosroheidari
      Pages 223-232
    5. Fatjon Leti, Lorida Llaci, Ivana Malenica, Johanna K. DiStefano
      Pages 233-254
  4. Functional Characterization of Susceptibility Alleles and Loci

    1. Front Matter
      Pages 255-255
    2. Jamie L. Everman, Cydney Rios, Max A. Seibold
      Pages 267-292
  5. Identification of Disease Genes

  6. Back Matter
    Pages 399-400

About this book


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 approaches to disease gene identification and overviews,  and case studies are also presented. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls.

Authoritative and practical, Disease Gene Identification: Methods and Protocols, Second Edition aims to help with the identification and characterization of many more disease-related genes and provide novel, and effective strategies for disease treatment and prevention.


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Editors and affiliations

  • Johanna K.  DiStefano
    • 1
  1. 1.Translational Genomics Research InstitutePhoenixUSA

Bibliographic information

  • DOI
  • Copyright Information Springer Science+Business Media, LLC 2018
  • Publisher Name Humana Press, New York, NY
  • eBook Packages Springer Protocols
  • Print ISBN 978-1-4939-7470-2
  • Online ISBN 978-1-4939-7471-9
  • Series Print ISSN 1064-3745
  • Series Online ISSN 1940-6029
  • Buy this book on publisher's site