Next Generation Sequencing Technologies in Medical 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 sequen...
| Main Authors: | , , , |
|---|---|
| Format: | eBook |
| Language: | English |
| Published: |
New York, NY
Springer New York
2013, 2013
|
| Edition: | 1st ed. 2013 |
| Series: | SpringerBriefs in Genetics
|
| Subjects: | |
| Online Access: | |
| Collection: | Springer eBooks 2005- - Collection details see MPG.ReNa |
| Summary: | 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 |
|---|---|
| Physical Description: | XII, 94 p. 5 illus. in color online resource |
| ISBN: | 9781461490326 |