1 option
Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders / edited by Lee-Jun C. Wong.
- Format:
- Book
- Language:
- English
- Subjects (All):
- Life sciences.
- Human genetics.
- Biometry.
- Microbial genetics.
- Microbial genomics.
- Life Sciences.
- Local Subjects:
- Life Sciences.
- Physical Description:
- 1 online resource
- Contained In:
- Springer eBooks
- Place of Publication:
- Cham : Springer International Publishing : Imprint: Springer, 2017.
- System Details:
- text file PDF
- Summary:
- 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 future development in the area of NGS-based molecular diagnosis. This up-to-date volume will not only provide the readers working with Next Generation Sequencing the basics on how to apply the technology to molecular diagnosis, but will present the results and experience of practical application.
- 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.
- Other Format:
- Printed edition:
- ISBN:
- 9783319564180
- Access Restriction:
- Restricted for use by site license.
The Penn Libraries is committed to describing library materials using current, accurate, and responsible language. If you discover outdated or inaccurate language, please fill out this feedback form to report it and suggest alternative language.