书目名称 | Next Generation Sequencing Technologies in Medical Genetics | 编辑 | C. Alexander Valencia,M. Ali Pervaiz,Kejian Zhang | 视频video | | 概述 | Describes the direct application of NGS sequencing to medicine.Focuses on application in molecular diagnostics?.Introduces readers to the wealth of next-generation technologies | 丛书名称 | SpringerBriefs in Genetics | 图书封面 |  | 描述 | 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. | 出版日期 | Book 2013 | 关键词 | Genomics; Molecular Dianostics; NGS Technology; Next Generation Sequencing | 版次 | 1 | doi | https://doi.org/10.1007/978-1-4614-9032-6 | isbn_softcover | 978-1-4614-9031-9 | isbn_ebook | 978-1-4614-9032-6Series ISSN 2191-5563 Series E-ISSN 2191-5571 | issn_series | 2191-5563 | copyright | C. Alexander Valencia 2013 |
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