Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders

Chapter 1 Overview of the Clinical Utility of Next Generation Sequencing in Molecular Diagnoses of Human Genetic Disorders

Chapter 2 Detection of Copy Number Variations (CNVs) Based on the Coverage Depth from the Next Generation Sequencing Data

Chapter 3 Next Generation Sequencing (NGS) Based Panel Analysis of Metabolic Pathways

Chapter 4 The Next Generation Sequencing Based Molecular Diagnosis of Visual Diseases

Chapter 5 Application of Next-Generation Sequencing to Hearing Loss

Chapter 6 Next-Generation Sequencing Based Clinical Molecular Diagnosis of Primary Immunodeficiency Diseases

Chapter 7 Next-Generation Sequencing Based Testing for Disorders of the Skeleton

Chapter 8 Diagnosing Hereditary Cancer Susceptibility Through Multigene Panel Testing

Chapter 9 Application of Next-Generation Sequencing in Noonan Spectrum Disorders

Chapter 10 The Applications and Challenges of Next-Generation Sequencing in Diagnosing Neuromuscular Disorders

Chapter 11 Next-Generation Sequencing for the Diagnosis of Monogenic Disorders of Insulin Secretion

Chapter 12 Application of NGS in the Diagnosis of Cardiovascular Genetic Diseases

Chapter 13 Comprehensive Analyses of the Mitochondrial Genome

Chapter 14 Exome Sequencing in the Clinical Setting

Chapter 15 Family-Based Next-Generation Sequencing Analysis

Chapter 16 Next Generation of Carrier Screening

Chapter 17 Erratum to: Application of Next-Generation Sequencing to Hearing Loss