Next Generation Sequencing

Part I. Overview

1. History of DNA Sequencing Technologies
Lisa D. White

2. Clinical Molecular Diagnostic Techniques: A Brief Review
Megan L. Landsverk, Lee-Jun C. Wong

Part II. The Technologies and Bioinformatics

3. Methods of Gene Enrichment and Massively Parallel Sequencing Technologies
Hong Cui

4. Sequence Alignment, Analysis, and Bioinformatic Pipelines
Fuli Yu, Cristian Coarfa

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

6. Algorithms and Guidelines for Interpretation of DNA Variants
Jing Wang, Megan Landsverk

Part III. Application to Clinical Diagnosis

7. NGS-Based Clinical Diagnosis of Genetically Heterogeneous Disorders
C. A. Valencia, T. A. Sivakumaran, B. T. Tinkle, A. Husami, K. Zhang

8. Molecular Diagnosis of Congenital Disorders of Glycosylation (CDG)
Melanie Jones, Madhuri Hegde

9. NGS Improves the Diagnosis of X-Linked Intellectual Disability (XLID)
Michael J. Friez, Monica J. Basehore

10. NGS Analysis of Heterogeneous Retinitis Pigmentosa
Rui Chen, Feng Wang

11. Next-Generation Sequencing Analyses of the Whole Mitochondrial Genome
Lee-Jun C. Wong

12. Application of Next-Generation Sequencing of Nuclear Genes for Mitochondrial Disorders
Valeria Vasta, Si Houn Hahn

13. Noninvasive Prenatal Diagnosis Using Next-Generation Sequencing
Nancy Bo Yin Tsui, Yuk Ming Dennis Lo

Part IV. Compliance with CAP/CLIA Regulations

14. Guidelines and Approaches to Compliance with Regulatory and Clinical Standards: Quality Control Procedures and Quality Assurance
Ira M. Lubin, Lisa Kalman, Amy S. Gargis

15. Validation of NGS-Based DNA Testing and Implementation of Quality Control Procedures
Victor Wei Zhang, Lee-Jun C. Wong

16. Frequently Asked Questions About the Clinical Utility of Next-Generation Sequencing in Molecular Diagnosis of Human Genetic Diseases
Ephrem L. H. Chin, Victor Wei Zhang, Jing Wang, Margherita Milone, Susan Pacheco, William J. Craigen, Lee-Jun C. Wong

Avainsanat: Biomedicine, Human Genetics, Bioinformatics, Biomedicine general