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書名 Next generation sequencing based clinical molecular diagnosis of human genetic disorders / edited by Lee-Jun C. Wong
出版項 Cham : Springer International Publishing : Imprint: Springer, 2017
國際標準書號 9783319564180 (electronic bk.)
9783319564166 (paper)
國際標準號碼 10.1007/978-3-319-56418-0 doi
book jacket
說明 1 online resource (viii, 364 pages) : illustrations, digital ; 24 cm
text txt rdacontent
computer c rdamedia
online resource cr rdacarrier
text file PDF rda
附註 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
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
Host Item Springer eBooks
主題 Genetic disorders -- Molecular diagnosis
Life Sciences
Microbial Genetics and Genomics
Human Genetics
Biostatistics
Alt Author Wong, Lee-Jun C., editor
SpringerLink (Online service)
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