Úplné zobrazení záznamu

Toto je statický export z katalogu ze dne 23.01.2021. Zobrazit aktuální podobu v katalogu.

Bibliografická citace

.
0 (hodnocen0 x )
EB
EB
ONLINE
Cham : Springer International Publishing : Imprint: Springer, 2017
1 online zdroj
Externí odkaz    Plný text PDF 
   * Návod pro vzdálený přístup 


ISBN 978-3-319-56418-0 (e-kniha)
ISBN 9783319564166 (print)
Printed edition: ISBN 9783319564166
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..
001474065

Zvolte formát: Standardní formát Katalogizační záznam Zkrácený záznam S textovými návěštími S kódy polí MARC