Disease Gene Identification : Methods and Protocols / edited by Johanna K. DiStefano.

Format:

Book

Contributor:

DiStefano, Johanna K., editor.

SpringerLink (Online service)

Series:

Methods in molecular biology 1064-3745 ; 1706.

Methods in Molecular Biology, 1064-3745 ; 1706

Language:

English

Subjects (All):

Medicine.

Human genetics.

Biomedicine.

Human Genetics.

Local Subjects:

Biomedicine.

Human Genetics.

Physical Description:

1 online resource (X, 400 pages) : 63 illustrations, 50 illustrations in color.

Edition:

Second edition 2018.

Contained In:

Springer eBooks

Place of Publication:

New York, NY : Springer New York : Imprint: Humana Press, 2018.

System Details:

text file PDF

Summary:

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.

Contents:

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

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 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

miRNA Quantification Method using Quantitative Polymerase Chain Reaction in Conjunction with the Cq Method

Lentiviral

mediated CRISPR

cas9 Gene Editing of Primary Human Airway Epithelial Cells

RNA Interference to Knockdown Gene Expression

Using Luciferase Reporter Assays to Identify Functional Variants at Disease-associated Loci

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.

Other Format:

Printed edition:

ISBN:

9781493974719

Access Restriction:

Restricted for use by site license.