Next Generation Sequencing Technologies in Medical Genetics

• Κύριοι συγγραφείς: Valencia, C. Alexander (Συγγραφέας), Pervaiz, M. Ali (Συγγραφέας), Husami, Ammar (Συγγραφέας), Qian, Yaping (Συγγραφέας), Zhang, Kejian (Συγγραφέας)
• Συγγραφή απο Οργανισμό/Αρχή: SpringerLink (Online service)
• Μορφή: Ηλεκτρονική πηγή Ηλ. βιβλίο
• Γλώσσα: English
• Έκδοση: New York, NY : Springer New York : Imprint: Springer, 2013.
• Σειρά: SpringerBriefs in Genetics,
• Θέματα: Medicine.; Human genetics.; Medical genetics.; Biomedicine.; Human Genetics.; Gene Function.; Biomedicine general.

This book introduces readers to Next Generation Sequencing applications in medical genetics. The authors discuss the direct application of next-generation sequencing to medicine, specifically, laboratory medicine or molecular diagnostics. The first part of the book contains chapters on sanger sequen...

Πίνακας περιεχομένων:

• Sanger sequencing principles, history and landmarks
• A survey of next-generation sequencing technologies
• A review of DNA enrichment technologies
• Application of next-generation sequencing to the diagnosis of genetic disorders a brief overview
• Next-generation sequencing-based noninvasive prenatal diagnosis
• Diagnosis of inherited neuromuscular disorders by next-generation sequencing
• Application of next-generation sequencing in hearing loss diagnosis
• Exome sequencing as a discovery and a diagnostic tool
• Challenges of next-generation sequencing-based molecular diagnostics.