| 书目名称 | Genomic Structural Variants |
| 副标题 | Methods and Protocol |
| 编辑 | Lars Feuk |
| 视频video | |
| 概述 | Includes cutting-edge methods and protocols.Provides step-by-step detail essential for reproducible results.Contains key notes and implementation advice from the experts.Includes supplementary materia |
| 丛书名称 | Methods in Molecular Biology |
| 图书封面 |  |
| 描述 | .The completion of a consensus draft sequence for the human genome was the starting point for more thorough investigations of individual genome variation. The development of array-based strategies made it possible to look at our genome in new ways and for new types of variation to be discovered and characterized. Characterization of copy number variation and other forms of structural genetic variation has highlighted the complexity of human genetic variation and also provided significant insight into the evolution and dynamic nature of our genome. .Genomic Structural Variants: Methods and Protocols. provides an in-depth description of the developments in our understanding of structural genetic variation and its implications for human disease, from the introduction of microarrays up to current state-of-the-art sequencing strategies. It covers the major technologies used for research and diagnostics as well as web-based resources for variation data, and it then goes into depth regarding specific regions of the genome that differ in variation content. Specific patient groups where copy number variation has been shown to be of great importance are highlighted, and implications for bot |
| 出版日期 | Book 2012 |
| 关键词 | copy number variation (CNV); genomic disorders; genomic structural variation; human genome; personal gen |
| 版次 | 1 |
| doi | https://doi.org/10.1007/978-1-61779-507-7 |
| isbn_softcover | 978-1-4939-6189-4 |
| isbn_ebook | 978-1-61779-507-7Series ISSN 1064-3745 Series E-ISSN 1940-6029 |
| issn_series | 1064-3745 |
| copyright | Springer Science+Business Media, LLC 2012 |
发表于 2025-3-21 18:18:34
