• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>American Journal of Bioinformatics Research >Mitochondrial Heteroplasmy: Detection and Significance
【24h】

Mitochondrial Heteroplasmy: Detection and Significance

机译：线粒体异质性：检测和意义

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

The existence of sequence variants within the mitochondrial DNA of an individual cell known as heteroplasmy can be detected using numerous methods. The development of sequencing methods beyond the traditional Sanger method to massively parallel sequencing has made it possible to produce rapidly vast amounts of sequence information. The levels of heteroplasmy reported vary and may depend on a multitude of factors, including technical artifacts. Most of the variability is attributed to the established threshold for mtDNA mutation detection. Technical artifacts can arise from the sequencing chemistry used as well as the data handling approaches used. Only after a standard method for generating and reporting heteroplasmy data exists will it be possible to move forward towards determining the significance of mitochondrial DNA variations. The amount of heteroplasmy required to cause disease must be examined in greater detail before an exact conclusion is reached. The present report will note that the focus of many researchers has been to argue about techniques instead of understanding the extent and implications of mitochondrial heteroplasmy.
机译：可以使用许多方法检测称为异质体的单个细胞的线粒体DNA内的序列变体的存在。在传统的Sanger方法之外的测序方法的开发使得大规模平行测序使得可以产生迅速大量的序列信息。报告的异质水平有所不同，可能取决于多种因素，包括技术伪影。大多数可变性归因于MTDNA突变检测的已建立的阈值。从使用的测序化学以及使用的数据处理方法可能出现技术伪影。仅在存在和报告异质数据的标准方法之后，存在甚至可以向前移动，以确定线粒体DNA变异的重要性。在达到确切的结论之前，必须更详细地检查引起疾病所需的异质量。本报告将注意到，许多研究人员的重点是争论技术，而不是理解线粒体异质的程度和影响。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号