移动元件生物学：高通量测序带来的新可能。
Mobile element biology: new possibilities with high-throughput sequencing.
机构信息
Department of Genetics, Human Genetic Institute of New Jersey, Rutgers, State University of New Jersey, Piscataway, NJ 08854, USA.
出版信息
Trends Genet. 2013 May;29(5):280-9. doi: 10.1016/j.tig.2012.12.002. Epub 2013 Jan 9.
Abstract
Mobile elements comprise more than half of the human genome, but until recently their large-scale detection was time consuming and challenging. With the development of new high-throughput sequencing (HTS) technologies, the complete spectrum of mobile element variation in humans can now be identified and analyzed. Thousands of new mobile element insertions (MEIs) have been discovered, yielding new insights into mobile element biology, evolution, and genomic variation. Here, we review several high-throughput methods, with an emphasis on techniques that specifically target MEIs in humans. We highlight recent applications of these methods in evolutionary studies and in the analysis of somatic alterations in human normal and tumor tissues.
摘要
移动元件占据人类基因组的一半以上，但直到最近，大规模检测它们仍然既耗时又具有挑战性。随着高通量测序（HTS）新技术的发展，人类中移动元件变异的完整谱现在可以被识别和分析。已经发现了数千个新的移动元件插入（MEI），为移动元件的生物学、进化和基因组变异提供了新的见解。在这里，我们回顾了几种高通量方法，重点介绍了专门针对人类 MEI 的技术。我们强调了这些方法在进化研究以及在分析人类正常和肿瘤组织中的体细胞改变中的最新应用。
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