Disease gene identification : methods and protocols / edited by Johanna K. DiStefano.

Includes bibliographical references and index.

Identification of disease susceptibility alleles in the next generation sequencing era / Johanna K. DiStefano and Christopher B. Kingsley -- Induced pluripotent stem cells in disease modeling and gene identification / Satish Kumar, John Blangero, and Joanne E. Curran -- Development of targeted therapies based on gene modification / Taylor M. Benson, Fatjon Leti, and Johanna K. DiStefano -- What can we learn about human disease from the nematode C. elegans / Javier Apfeld and Scott Alper -- Microbiome sequencing methods for studying human diseases / Rebecca M. Davidson and L. Elaine Epperson -- Emerging role of long noncoding RNAs in human disease / Johanna K. DiStefano -- Identification of disease-related genes using a genome-wide association study approach / Tobias Wohland and Dorit Schleinitz -- Whole genome library construction for next generation sequencing / Jonathan J. Keats, Lori Cuyugan, Jonathan Adkins, and Winnie S. Liang -- 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 -- 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 and Brian P. O'Connor -- Using fluidigm C1 to generate single-cell full-length cDNA libraries for mRNA sequencing / Robert Durruthy-Durruthy and Manisha Ray -- MiSeq : a next generation sequencing platform for genomic analysis / Rupesh Kanchi Ravi, Kendra Walton, and Mahdieh Khosroheidari -- Methods for CpG methylation array profiling via bisulfite conversion / Fatjon Leti, Lorida Llaci, Ivana Malenica, and Johanna K. DiStefano -- miRNA quantification method using quantitative polymerase chain reaction in conjunction with Cq method / Fatjon Leti and Johanna K. DiStefano -- Primary airway epithelial cell gene editing using CRISPR-Cas9 / Jamie L. Everman, Cydney Rios, and Max A. Seibold -- RNA interference to knock down gene expression / Haiyong Han -- Using luciferase reporter assays to identify functional variants at disease-associated loci / Anup K. Nair and Leslie J. Baier -- Physiologic interpretation of GWAS signals for type 2 diabetes / Richard M. Watanabe -- Identification of Genes for Hereditary Hemochromatosis / Glenn S. Gerhard, Barbara V. Paynton, and Johanna K. DiStefano -- 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. Hendricks -- 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.