Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders

• Corporate Author: SpringerLink (Online service)
• Other Authors: Wong, Lee-Jun C. (Editor)
• Format: Electronic eBook
• Language: English
• Published: Cham : Springer International Publishing : Imprint: Springer, 2017.
• Subjects: Life sciences.; Human genetics.; Biostatistics.; Microbial genetics.; Microbial genomics.; Life Sciences.; Microbial Genetics and Genomics.; Human Genetics.

Next Generation Sequencing technology has been applied to clinical diagnoses in the past three to five years using various approaches, including target gene panels and whole exomes.  The purpose of this book is to summarize the experiences, the results, advantages and disadvantages, along with futur...

Table of Contents:

• Part I: overview
• 1. NGS, The new gold standard of identification of defective genes
• 2. Principles of target gene enrichments, pros and cons
• 3. Criteria for clinical application: Full validation and performance characteristics
• 4. Clinical requirements: variant interpretation, confirmation, and turnaround time
• Part II: Experiences in various applications
• 5. The metabolic pathways: GSD, CDG, cobalamin metabolism, and others
• 6.  The eye gene panels
• 7. The otogenes
• 8. The immunodeficiency disorders
• 9. The bone density and skeletal related disorders
• 10.The hereditary cancer genes
• 11.The molecular diagnosis of cancers and implications in treatment: Marilyn Li
• 12. Neuromuscular disorders
• 13. The cardiac panel: YuXin Fan, GeneDx or Harvard Partner
• 14. The mitochondrial genome
• 15. The Nuclear Mitomes.