目次

Part I: Introduction 1. Identification of Disease Susceptibility Alleles in the Next Generation Sequencing Era Johanna K. DiStefano and Christopher B. Kingsley   2. Induced Pluripotent Stem Cells in Disease Modeling and Gene Identification Satish Kumar, John Blangero, and Joanne E. Curran   3. Development of Targeted Therapies Based on Gene Modification Taylor Benson, Fatjon Leti, and Johanna K. DiStefano   4. What can we Learn about Human Disease from the Nematode C. elegans? Javier Apfeld and Scott AlperstParagr5. Microbiome Sequencing Methods for Studying Human Diseases Rebecca M. Davidson and L. Elaine Epperson   6. The Emerging Role of Long Noncoding RNAs in Human Disease Johanna K. DiStefano Part II: Methods for Gene Identification7. Identification of Disease-related Genes using a Genome-wide Association Study Approach Tobias Wohland and Dorit Schleinitz   8. Whole Genome Library Construction for Next Generation Sequencing Jonathan J. Keats, Lori Cuyugan, Jonathan Adkins, and Winnie S. Liang  9. Whole Exome Library Construction for Next Generation Sequencing Winnie S. Liang, Kristi Stephenson, Jonathan Adkins, Austin Christofferson, Adrienne Helland, Lori Cuyugan, and Jonathan J. Keats  10. Optimized Methodology for the Generation of RNA-sequencing Libraries from Low-input Starting Material: Enabling Analysis of Specialized Cell Types and Clinical Samples Brian O’Connor and Kendra Walton11. Using C1 to Generate Single-cell Full-length cDNA Libraries for mRNA Sequencing Robert Durruthy-Durruthy and Manisha Ray   12. MiSeq: A Next Generation Sequencing Platform for Genomic Analysis Rupesh Kanchi Ravi, Kendra Walton, and Mahdieh Khosroheidari>13 Methods for CpG Methylation Array Profiling via Bisulfite Conversion MsoListParagraphCxSpLast" style="margin-left: 0.0in;">Fatjon Leti, Lorida Llaci, Ivana Malenica, and Johanna K. DiStefano Part III: Functional Characterization of Susceptibility Alleles and Loci 14. miRNA Quantification Method using Quantitative Polymerase Chain Reaction in Conjunction with the Cq Methodspan>Fatjon Leti and Johanna K. DiStefanoserif in-left: 0.0in;">Gene Editing of Primary Human Airway Epithelial CellsJamie L. Everman, Cydney Rios, and Max A. Seibold   16. RNA Interference to Knockdown Gene Expression Haiyong Han 17. Using Luciferase Reporter Assays to Identify Functional Variants at Disease-associated Loci Anup K. Nair and Leslie J. Baier PART IV: Identification of Disease Genes 18. Physiologic Interpretation of GWAS Signals for type 2 Diabetes Richard M. Watanabe 19. Identification of Genes for Hereditary Hemochromatosis Glenn S. Gerhard, Barbara V. Paynton, and Johanna K. DiStefano   20. Identification of Driver Mutations in Rare Cancers: The Role of SMARCA4 in Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT) Jessica D. Lang and William P.D. Hendricksan 21. The Rise and Fall and Rise of Linkage Analysis as a Technique for Finding and Characterizing Inherited Influences on Disease Expression Ettie M. Lipner and David A. Greenberg