Next Generation Sequencing

Chapter 1 History of DNA Sequencing Technologies

Chapter 2 Clinical Molecular Diagnostic Techniques: A Brief Review

Chapter 3 Methods of Gene Enrichment and Massively Parallel Sequencing Technologies

Chapter 4 Sequence Alignment, Analysis, and Bioinformatic Pipelines

Chapter 5 Protein Structural Based Analysis for Interpretation of Missense Variants at the Genomics Era: Using MNGIE Disease as an Example

Chapter 6 Algorithms and Guidelines for Interpretation of DNA Variants

Chapter 7 NGS-Based Clinical Diagnosis of Genetically Heterogeneous Disorders

Chapter 8 Molecular Diagnosis of Congenital Disorders of Glycosylation (CDG)

Chapter 9 NGS Improves the Diagnosis of X-Linked Intellectual Disability (XLID)

Chapter 10 NGS Analysis of Heterogeneous Retinitis Pigmentosa

Chapter 11 Next-Generation Sequencing Analyses of the Whole Mitochondrial Genome

Chapter 12 Application of Next-Generation Sequencing of Nuclear Genes for Mitochondrial Disorders

Chapter 13 Noninvasive Prenatal Diagnosis Using Next-Generation Sequencing

Chapter 14 Guidelines and Approaches to Compliance with Regulatory and Clinical Standards: Quality Control Procedures and Quality Assurance

Chapter 15 Validation of NGS-Based DNA Testing and Implementation of Quality Control Procedures

Chapter 16 Frequently Asked Questions About the Clinical Utility of Next-Generation Sequencing in Molecular Diagnosis of Human Genetic Diseases