Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders

Front Matter....Pages i-viii
Overview of the Clinical Utility of Next Generation Sequencing in Molecular Diagnoses of Human Genetic Disorders....Pages 1-11
Detection of Copy Number Variations (CNVs) Based on the Coverage Depth from the Next Generation Sequencing Data....Pages 13-22
Next Generation Sequencing (NGS) Based Panel Analysis of Metabolic Pathways....Pages 23-49
The Next Generation Sequencing Based Molecular Diagnosis of Visual Diseases....Pages 51-69
Application of Next-Generation Sequencing to Hearing Loss....Pages 71-87
Next-Generation Sequencing Based Clinical Molecular Diagnosis of Primary Immunodeficiency Diseases....Pages 89-112
Next-Generation Sequencing Based Testing for Disorders of the Skeleton....Pages 113-121
Diagnosing Hereditary Cancer Susceptibility Through Multigene Panel Testing....Pages 123-153
Application of Next-Generation Sequencing in Noonan Spectrum Disorders....Pages 155-176
The Applications and Challenges of Next-Generation Sequencing in Diagnosing Neuromuscular Disorders....Pages 177-200
Next-Generation Sequencing for the Diagnosis of Monogenic Disorders of Insulin Secretion....Pages 201-242
Application of NGS in the Diagnosis of Cardiovascular Genetic Diseases....Pages 243-286
Comprehensive Analyses of the Mitochondrial Genome....Pages 287-304
Exome Sequencing in the Clinical Setting....Pages 305-320
Family-Based Next-Generation Sequencing Analysis....Pages 321-338
Next Generation of Carrier Screening....Pages 339-354
Back Matter....Pages 355-364