Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders - Wong, Lee-Jun C.; SpringerLink (Online service) (Cham : Springer International Publishing : Imprint: Springer, 2017)
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.
Keywords: Microbial genetics; Microbial genomics; Human genetics; Biostatistics; Microbial Genetics and Genomics; Human Genetics; Biostatistics