Disease Gene Identification: Methods and Protocols (2nd Edition)

Download Disease Gene Identification: Methods and Protocols (2nd Edition) written by Johanna K. DiStefano in PDF format. This book is under the category Genetics and bearing the isbn/isbn13 number 149397470X/9781493974702. You may reffer the table below for additional details of the book.


SKU: 0ee8b85a85a4 Category: Tag:



Johanna K. DiStefano


Humana; 2nd ed. 2018 edition




396 pages







Book Description

This publication, Disease Gene Identification 2nd edition (PDF), provides in-depth laboratory procedures in an easy-to-follow manner. These procedures can be carried out successfully by investigators who have not previously been exposed to a particular research approach. Students are led through the process of applying molecular techniques to the identification of disease genes in a chapter, during which they are also presented with case studies and overviews. Written in the format of the highly successful Methods in Molecular Biology series, the chapters include introductions to their respective topics, step-by-step instructions, lists of the necessary materials and reagents, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls.

Disease Gene Identification: Methods and Protocols, Second Edition is an authoritative and practical book that intends to help with the identification and characterisation of many more disease-related genes and provide unique and effective strategies for the treatment and prevention of disease.

Table of contents

Table of contents :
Front Matter ….Pages i-x
Front Matter ….Pages 1-1
Identification of Disease Susceptibility Alleles in the Next Generation Sequencing Era (Johanna K. DiStefano, Christopher B. Kingsley)….Pages 3-16
Induced Pluripotent Stem Cells in Disease Modeling and Gene Identification (Satish Kumar, John Blangero, Joanne E. Curran)….Pages 17-38
Development of Targeted Therapies Based on Gene Modification (Taylor M. Benson, Fatjon Leti, Johanna K. DiStefano)….Pages 39-51
What Can We Learn About Human Disease from the Nematode C. elegans? (Javier Apfeld, Scott Alper)….Pages 53-75
Microbiome Sequencing Methods for Studying Human Diseases (Rebecca M. Davidson, L. Elaine Epperson)….Pages 77-90
The Emerging Role of Long Noncoding RNAs in Human Disease (Johanna K. DiStefano)….Pages 91-110
Front Matter ….Pages 111-111
Identification of Disease-Related Genes Using a Genome-Wide Association Study Approach (Tobias Wohland, Dorit Schleinitz)….Pages 113-150
Whole Genome Library Construction for Next Generation Sequencing (Jonathan J. Keats, Lori Cuyugan, Jonathan Adkins, Winnie S. Liang)….Pages 151-161
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
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
Using Fluidigm C1 to Generate Single-Cell Full-Length cDNA Libraries for mRNA Sequencing (Robert Durruthy-Durruthy, Manisha Ray)….Pages 199-221
MiSeq: A Next Generation Sequencing Platform for Genomic Analysis (Rupesh Kanchi Ravi, Kendra Walton, Mahdieh Khosroheidari)….Pages 223-232
Methods for CpG Methylation Array Profiling Via Bisulfite Conversion (Fatjon Leti, Lorida Llaci, Ivana Malenica, Johanna K. DiStefano)….Pages 233-254
Front Matter ….Pages 255-255
miRNA Quantification Method Using Quantitative Polymerase Chain Reaction in Conjunction with Cq Method (Fatjon Leti, Johanna K. DiStefano)….Pages 257-265
Primary Airway Epithelial Cell Gene Editing Using CRISPR-Cas9 (Jamie L. Everman, Cydney Rios, Max A. Seibold)….Pages 267-292
RNA Interference to Knock Down Gene Expression (Haiyong Han)….Pages 293-302
Using Luciferase Reporter Assays to Identify Functional Variants at Disease-Associated Loci (Anup K. Nair, Leslie J. Baier)….Pages 303-319
Front Matter ….Pages 321-321
Physiologic Interpretation of GWAS Signals for Type 2 Diabetes (Richard M. Watanabe)….Pages 323-351
Identification of Genes for Hereditary Hemochromatosis (Glenn S. Gerhard, Barbara V. Paynton, Johanna K. DiStefano)….Pages 353-365
Identification of Driver Mutations in Rare Cancers: The Role of SMARCA4 in Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT) (Jessica D. Lang, William P. D. Hendricks)….Pages 367-379
The Rise and Fall and Rise of Linkage Analysis as a Technique for Finding and Characterizing Inherited Influences on Disease Expression (Ettie M. Lipner, David A. Greenberg)….Pages 381-397
Back Matter ….Pages 399-400

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