Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders
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| Format: | eBook |
| Language: | English |
| Published: |
Cham :
Springer International Publishing : Imprint: Springer,
2017.
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| Edition: | 1st ed. 2017. |
| Subjects: | |
| Online Access: | https://doi.org/10.1007/978-3-319-56418-0 |
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.