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TEfinder:一种用于检测下一代测序数据中新转座元件插入事件的生物信息学管道。

TEfinder: A Bioinformatics Pipeline for Detecting New Transposable Element Insertion Events in Next-Generation Sequencing Data.

机构信息

Department of Biochemistry and Molecular Biology, University of Massachusetts Amherst, Amherst, MA 01003, USA.

Departamento de Genética, Universidad de Córdoba, 14071 Córdoba, Spain.

出版信息

Genes (Basel). 2021 Feb 4;12(2):224. doi: 10.3390/genes12020224.

Abstract

Transposable elements (TEs) are mobile elements capable of introducing genetic changes rapidly. Their importance has been documented in many biological processes, such as introducing genetic instability, altering patterns of gene expression, and accelerating genome evolution. Increasing appreciation of TEs has resulted in a growing number of bioinformatics software to identify insertion events. However, the application of existing tools is limited by either narrow-focused design of the package, too many dependencies on other tools, or prior knowledge required as input files that may not be readily available to all users. Here, we reported a simple pipeline, TEfinder, developed for the detection of new TE insertions with minimal software and input file dependencies. The external software requirements are BEDTools, SAMtools, and Picard. Necessary input files include the reference genome sequence in FASTA format, an alignment file from paired-end reads, existing TEs in GTF format, and a text file of TE names. We tested TEfinder among several evolving populations of generated through a short-term adaptation study. Our results demonstrate that this easy-to-use tool can effectively detect new TE insertion events, making it accessible and practical for TE analysis.

摘要

转座元件 (TEs) 是能够快速引入遗传变化的可移动元件。它们在许多生物学过程中的重要性已得到证实,例如引入遗传不稳定性、改变基因表达模式和加速基因组进化。对 TEs 的认识不断提高,导致了越来越多的生物信息学软件来识别插入事件。然而,现有工具的应用受到软件包设计狭窄、对其他工具的依赖性过多或作为输入文件所需的先验知识的限制,这些输入文件可能不是所有用户都能轻易获得的。在这里,我们报告了一个简单的管道,TEfinder,用于检测具有最小软件和输入文件依赖性的新 TE 插入。外部软件要求是 BEDTools、SAMtools 和 Picard。必要的输入文件包括 FASTA 格式的参考基因组序列、来自配对末端读取的对齐文件、GTF 格式的现有 TE 和 TE 名称的文本文件。我们在通过短期适应研究产生的几个进化群体中测试了 TEfinder。我们的结果表明,这个易于使用的工具可以有效地检测新的 TE 插入事件,使其易于 TE 分析和实用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d745/7914406/f60f125fa8e9/genes-12-00224-g001.jpg

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