Next Generation Sequencing Technologies in Medical Genetics

✍ Scribed by C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang

Publisher: Springer
Year: 2013
Tongue: English
Leaves: 101
Series: SpringerBriefs in Genetics
Edition: 2013
Category: Library

No coin nor oath required. For personal study only.

✦ Synopsis

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.

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