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  • © 2018

Disease Gene Identification

Methods and Protocols

  • Includes cutting-edge methods and protocols
  • Provides step-by-step detail essential for reproducible results
  • Contains key notes and implementation advice from the experts

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

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Table of contents (21 protocols)

  1. Front Matter

    Pages i-x
  2. Introduction

    1. Front Matter

      Pages 1-1
    2. Identification of Disease Susceptibility Alleles in the Next Generation Sequencing Era

      • Johanna K. DiStefano, Christopher B. Kingsley
      Pages 3-16
    3. Induced Pluripotent Stem Cells in Disease Modeling and Gene Identification

      • Satish Kumar, John Blangero, Joanne E. Curran
      Pages 17-38
    4. Development of Targeted Therapies Based on Gene Modification

      • Taylor M. Benson, Fatjon Leti, Johanna K. DiStefano
      Pages 39-51
    5. Microbiome Sequencing Methods for Studying Human Diseases

      • Rebecca M. Davidson, L. Elaine Epperson
      Pages 77-90
  3. Methods for Gene Identification

    1. Front Matter

      Pages 111-111
    2. Whole Genome Library Construction for Next Generation Sequencing

      • Jonathan J. Keats, Lori Cuyugan, Jonathan Adkins, Winnie S. Liang
      Pages 151-161
    3. Whole Exome Library Construction for Next Generation Sequencing

      • Winnie S. Liang, Kristi Stephenson, Jonathan Adkins, Austin Christofferson, Adrienne Helland, Lori Cuyugan et al.
      Pages 163-174
    4. MiSeq: A Next Generation Sequencing Platform for Genomic Analysis

      • Rupesh Kanchi Ravi, Kendra Walton, Mahdieh Khosroheidari
      Pages 223-232
    5. Methods for CpG Methylation Array Profiling Via Bisulfite Conversion

      • 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. Primary Airway Epithelial Cell Gene Editing Using CRISPR-Cas9

      • Jamie L. Everman, Cydney Rios, Max A. Seibold
      Pages 267-292

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.

Editors and Affiliations

  • Translational Genomics Research Institute, 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/10.1007/978-1-4939-7471-9

  • Publisher: Humana New York, NY

  • eBook Packages: Springer Protocols

  • Copyright Information: Springer Science+Business Media, LLC 2018

  • Hardcover ISBN: 978-1-4939-7470-2Published: 09 February 2018

  • Softcover ISBN: 978-1-4939-8496-1Published: 06 June 2019

  • eBook ISBN: 978-1-4939-7471-9Published: 08 February 2018

  • Series ISSN: 1064-3745

  • Series E-ISSN: 1940-6029

  • Edition Number: 2

  • Number of Pages: X, 400

  • Number of Illustrations: 13 b/w illustrations, 50 illustrations in colour

  • Topics: Human Genetics

Buy it now

Buying options

eBook USD 99.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 129.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book USD 199.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access