Textbook in PDF format

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.
Front Matter
Front Matter
Identification of Disease Susceptibility Alleles in the Next Generation Sequencing Era
Induced Pluripotent Stem Cells in Disease Modeling and Gene Identification
Development of Targeted Therapies Based on Gene Modification
What Can We Learn About Human Disease from the Nematode C. elegans?
Microbiome Sequencing Methods for Studying Human Diseases
The Emerging Role of Long Noncoding RNAs in Human Disease
Front Matter
Identification of Disease-Related Genes Using a Genome-Wide Association Study Approach
Whole Genome Library Construction for Next Generation Sequencing
Whole Exome Library Construction for Next Generation Sequencing
Optimized Methodology for the Generation of RNA-Sequencing Libraries from Low-Input Starting Material: Enabling Analysis of Specialized Cell Types and Clinical Samples
Using Fluidigm C1 to Generate Single-Cell Full-Length cDNA Libraries for mRNA Sequencing
MiSeq: A Next Generation Sequencing Platform for Genomic Analysis
Methods for CpG Methylation Array Profiling Via Bisulfite Conversion
Front Matter
miRNA Quantification Method Using Quantitative Polymerase Chain Reaction in Conjunction with Cq Method
Primary Airway Epithelial Cell Gene Editing Using CRISPR-Cas9
RNA Interference to Knock Down Gene Expression
Using Luciferase Reporter Assays to Identify Functional Variants at Disease-Associated Loci
Front Matter
Physiologic Interpretation of GWAS Signals for Type 2 Diabetes
Identification of Genes for Hereditary Hemochromatosis
Identification of Driver Mutations in Rare Cancers: The Role of SMARCA4 in Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT)
The Rise and Fall and Rise of Linkage Analysis as a Technique for Finding and Characterizing Inherited Influences on Disease Expression
Back Matter