Identification and Genotyping of Transposable Element Insertions From Genome Sequencing Data.
Identification and Genotyping of Transposable Element Insertions From Genome Sequencing Data.
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DOI：
10.1002/cphg.102
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发表时间：
2020-09
影响因子：
--
通讯作者：
Lee EA
中科院分区：
文献类型：
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作者：
Chu C;Zhao B;Park PJ;Lee EA
转座因子（Transposable element，TE）的移动是基因组变异的重要来源，并且与多种人类疾病相关。人口规模全基因组测序的指数增长和长读段测序技术的快速创新为研究TE插入及其对人类健康和疾病的功能影响提供了前所未有的机会。然而，由于TE序列的重复性质，鉴定TE插入是具有挑战性的。在这里，我们回顾计算方法检测和基因分型TE插入使用短和长读测序，并讨论不同的方法的优点和缺点。
Transposable element (TE) mobilization is a significant source of genomic variation and has been associated with various human diseases. The exponential growth of population-scale whole-genome sequencing and rapid innovations in long-read sequencing technologies provide unprecedented opportunities to study TE insertions and their functional impact in human health and disease. Identifying TE insertions, however, is challenging due to the repetitive nature of the TE sequences. Here, we review computational approaches to detecting and genotyping TE insertions using short- and long-read sequencing and discuss the strengths and weaknesses of different approaches.