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Disease Gene Identification

Methods and Protocols

  • Book
  • © 2018

Overview

Editors:
  1. Johanna K. DiStefano

    1. Translational Genomics Research Institute, Phoenix, USA

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  • 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
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  2. Introduction

    1. Front Matter

      Pages 1-1
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    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. What Can We Learn About Human Disease from the Nematode C. elegans?

      • Javier Apfeld, Scott Alper
      Pages 53-75

    6. Microbiome Sequencing Methods for Studying Human Diseases

      • Rebecca M. Davidson, L. Elaine Epperson
      Pages 77-90

    7. The Emerging Role of Long Noncoding RNAs in Human Disease

      • Johanna K. DiStefano
      Pages 91-110

  3. Methods for Gene Identification

    1. Front Matter

      Pages 111-111
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    2. Identification of Disease-Related Genes Using a Genome-Wide Association Study Approach

      • Tobias Wohland, Dorit Schleinitz
      Pages 113-150

    3. Whole Genome Library Construction for Next Generation Sequencing

      • Jonathan J. Keats, Lori Cuyugan, Jonathan Adkins, Winnie S. Liang
      Pages 151-161

    4. 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

    5. Optimized Methodology for the Generation of RNA-Sequencing Libraries from Low-Input Starting Material: Enabling Analysis of Specialized Cell Types and Clinical Samples

      • Kendra Walton, Brian P. O’Connor
      Pages 175-198

    6. Using Fluidigm C1 to Generate Single-Cell Full-Length cDNA Libraries for mRNA Sequencing

      • Robert Durruthy-Durruthy, Manisha Ray
      Pages 199-221

    7. MiSeq: A Next Generation Sequencing Platform for Genomic Analysis

      • Rupesh Kanchi Ravi, Kendra Walton, Mahdieh Khosroheidari
      Pages 223-232

    8. 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
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    2. miRNA Quantification Method Using Quantitative Polymerase Chain Reaction in Conjunction with C q Method

      • Fatjon Leti, Johanna K. DiStefano
      Pages 257-265

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

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

    4. RNA Interference to Knock Down Gene Expression

      • Haiyong Han
      Pages 293-302
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Keywords

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

  • Industry Sectors: Biotechnology, Pharma

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