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.
• Φυσική περιγραφή: XII, 94 p. 5 illus. in color. online resource.
• ISBN: 9781461490326
• ISSN: 2191-5563

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 sequencing, NGS technologies, targeted-amplification and capture, and exome sequencing. The second part of the book focuses on genetic disorders diagnoses by NGS, prenatal diagnosis, muscular dystrophies, mitochondrial disorders diagnosis, and challenges in molecular diagnosis. Recent developments and potential future trends in NGS sequencing applications are highlighted, as well.