Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders

1. Overview of the Clinical Utility of Next Generation Sequencing in Molecular Diagnoses of Human Genetic Disorders
Lee-Jun C. Wong

2. Detection of Copy Number Variations (CNVs) Based on the Coverage Depth from the Next Generation Sequencing Data
Yanming Feng, David Chen, Lee-Jun C. Wong

3. Next Generation Sequencing (NGS) Based Panel Analysis of Metabolic Pathways
Elizabeth B. Gorman, Lee-Jun C. Wong

4. The Next Generation Sequencing Based Molecular Diagnosis of Visual Diseases
Xia Wang, Richard Alan Lewis

5. Application of Next-Generation Sequencing to Hearing Loss
Xinjian Wang, Lisa Dyer, Kejian Zhang, John Greinwald, C. Alexander Valencia

6. Next-Generation Sequencing Based Clinical Molecular Diagnosis of Primary Immunodeficiency Diseases
Lijun Wang, C. Alexander Valencia, Rebecca A. Marsh, Kejian Zhang

7. Next-Generation Sequencing Based Testing for Disorders of the Skeleton
Allison Tam, Victor Wei Zhang, Lee Jun Wong, Sandesh C. S. Nagamani

8. Diagnosing Hereditary Cancer Susceptibility Through Multigene Panel Testing
Holly LaDuca, Shuwei Li, A. J. Stuenkel, Virginia Speare, Jill S. Dolinsky, Elizabeth C. Chao

9. Application of Next-Generation Sequencing in Noonan Spectrum Disorders
Hui Mei, Hongzheng Dai, Jinglan Zhang, Lee-Jun Wong, Pilar L. Magoulas

10. The Applications and Challenges of Next-Generation Sequencing in Diagnosing Neuromuscular Disorders
Lijun Wang, Arunkanth Ankala, Hamoud Al Khallaf, Xinjian Wang, Mikhail Martchenko, Biao Dong, Ammar Husami, Kejian Zhang, C. Alexander Valencia

11. Next-Generation Sequencing for the Diagnosis of Monogenic Disorders of Insulin Secretion
Amy E. Knight Johnson, Siri Atma W. Greeley, Daniela del Gaudio

12. Application of NGS in the Diagnosis of Cardiovascular Genetic Diseases
Guoliang Wang, Vivan Niewiadonski, Jianping Li, Ruirui Ji, Wenxin Zou, Daniel J. Penny, Yuxin Fan

13. Comprehensive Analyses of the Mitochondrial Genome
Victor Wei Zhang, Lee-Jun C. Wong

14. Exome Sequencing in the Clinical Setting
Theodore Chiang, Magalie Leduc, Mari Tokita, Teresa Santiago-Sim, Yaping Yang

15. Family-Based Next-Generation Sequencing Analysis
Xia Wang, Linyan Meng, Magalie S. Leduc

16. Next Generation of Carrier Screening
Anastasia Fedick, Jinglan Zhang

Nyckelord: Life Sciences, Microbial Genetics and Genomics, Human Genetics, Biostatistics