Next Generation Sequencing Technologies in Medical Genetics

2013
ISBN: 978-1-4614-9031-9
Verlag: Springer

Buch, Englisch, 94 Seiten, Paperback, Format (B × H): 155 mm x 235 mm, Gewicht: 1963 g

Reihe: SpringerBriefs in Genetics

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.

Zielgruppe

Research

Autoren/Hrsg.

Valencia, C. Alexander

Pervaiz, M. Ali

Zhang, Kejian

Husami, Ammar

Qian, Yaping

Fachgebiete

• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Medizin, Gesundheitswesen Biomedizin, Medizinische Forschung, Klinische Studien
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Molekulare Medizin, Zellbiologie
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Humangenetik
• Naturwissenschaften Biowissenschaften Biowissenschaften Genetik und Genomik (nichtmedizinisch)

Inhaltsverzeichnis

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.