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LoRTE:利用低覆盖度PacBio长读长序列检测转座子诱导的基因组变异

LoRTE: Detecting transposon-induced genomic variants using low coverage PacBio long read sequences.

作者信息

Disdero Eric, Filée Jonathan

机构信息

Laboratoire Evolution, Génomes, Comportement, Ecologie; CNRS, IRD, Université Paris-Saclay, Gif-sur-Yvette, France.

出版信息

Mob DNA. 2017 Apr 8;8:5. doi: 10.1186/s13100-017-0088-x. eCollection 2017.

Abstract

BACKGROUND

Population genomic analysis of transposable elements has greatly benefited from recent advances of sequencing technologies. However, the short size of the reads and the propensity of transposable elements to nest in highly repeated regions of genomes limits the efficiency of bioinformatic tools when Illumina or 454 technologies are used. Fortunately, long read sequencing technologies generating read length that may span the entire length of full transposons are now available. However, existing TE population genomic softwares were not designed to handle long reads and the development of new dedicated tools is needed.

RESULTS

LoRTE is the first tool able to use PacBio long read sequences to identify transposon deletions and insertions between a reference genome and genomes of different strains or populations. Tested against simulated and genuine PacBio datasets, LoRTE appears to be a reliable and broadly applicable tool to study the dynamic and evolutionary impact of transposable elements using low coverage, long read sequences.

CONCLUSIONS

LoRTE is an efficient and accurate tool to identify structural genomic variants caused by TE insertion or deletion. LoRTE is available for download at http://www.egce.cnrs-gif.fr/?p=6422.

摘要

背景

转座元件的群体基因组分析极大地受益于测序技术的最新进展。然而,当使用Illumina或454技术时,短读长以及转座元件倾向于嵌套在基因组的高度重复区域,限制了生物信息学工具的效率。幸运的是,现在已有能够生成可能跨越完整转座子全长读长的长读长测序技术。然而,现有的转座元件群体基因组软件并非设计用于处理长读长,因此需要开发新的专用工具。

结果

LoRTE是首个能够使用PacBio长读长序列来识别参考基因组与不同菌株或群体基因组之间转座子缺失和插入的工具。经针对模拟和真实PacBio数据集测试,LoRTE似乎是一种可靠且广泛适用的工具,可利用低覆盖度的长读长序列来研究转座元件的动态和进化影响。

结论

LoRTE是一种用于识别由转座元件插入或缺失引起的结构基因组变异的高效且准确的工具。LoRTE可从http://www.egce.cnrs-gif.fr/?p=6422下载。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3545/5385071/09532b217359/13100_2017_88_Fig1_HTML.jpg

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