Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders. (2017)

• Record Type: Book
• Further Information: Note: Edited by Lee-Jun C. Wong.
• Editors: Wong, Lee-Jun C
• 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.
• Publisher Details: Cham : Springer International Publishing Imprint: Springer
• Publication Date: 2017
• Extent: 1 online resource (VIII, 364 pages), illustrations
• Subjects: 579.135; Genetic disorders -- Molecular diagnosis; Electronic books
• Languages: English
• ISBNs: 3319564188; 9783319564180
• Notes: Note: Includes bibliographical references at the end of each chapters and index.; Note: Description based on print version record.
• Access Rights: Legal Deposit; Only available on premises controlled by the deposit library and to one user at any one time; The Legal Deposit Libraries (Non-Print Works) Regulations (UK).
• Access Usage: Restricted: Printing from this resource is governed by The Legal Deposit Libraries (Non-Print Works) Regulations (UK) and UK copyright law currently in force.