转座因子
基因分型
人类基因组
生物
基因组
遗传学
计算生物学
结构变异
基因型
DNA转座因子
基因
作者
Xun Chen,Guillaume Bourque,Clément Goubert
出处
期刊:Methods in molecular biology
日期:2022-12-01
卷期号:: 63-83
被引量:1
标识
DOI:10.1007/978-1-0716-2883-6_4
摘要
Transposable element (TE) insertions are a major source of structural variation in the human genome. Due to the repetitive nature and biological importance of TEs, many bioinformatic tools have been developed to identify and genotype TE insertion polymorphisms using high-throughput short-reads. In this chapter, we outline recently developed methods to characterize TE insertion polymorphisms in human populations. We also provide detailed protocols to tackle this question primarily using three software: MELT2, ERVcaller, and TypeREF.
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