Disease Gene Identification : Methods and Protocols - DiStefano, Johanna K.; SpringerLink (Online service) (New York, NY : Springer New York : Imprint: Humana, 2018)
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.
Keywords: Human genetics; Human Genetics