Software evaluation for de novo detection of transposons

IF 4.7 2区 生物学 Q1 GENETICS & HEREDITY Mobile DNA Pub Date : 2022-04-27 DOI:10.1186/s13100-022-00266-2
Rodriguez, Matias, Makałowski, Wojciech
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引用次数: 13

Abstract

Transposable elements (TEs) are major genomic components in most eukaryotic genomes and play an important role in genome evolution. However, despite their relevance the identification of TEs is not an easy task and a number of tools were developed to tackle this problem. To better understand how they perform, we tested several widely used tools for de novo TE detection and compared their performance on both simulated data and well curated genomic sequences. As expected, tools that build TE-models performed better than k-mer counting ones, with RepeatModeler beating competitors in most datasets. However, there is a tendency for most tools to identify TE-regions in a fragmented manner and it is also frequent that small TEs or fragmented TEs are not detected. Consequently, the identification of TEs is still a challenging endeavor and it requires a significant manual curation by an experienced expert. The results will be helpful for identifying common issues associated with TE-annotation and for evaluating how comparable are the results obtained with different tools.
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转座子从头检测的软件评价
转座因子(te)是真核生物基因组的主要组成部分,在基因组进化中起着重要作用。然而,尽管它们具有相关性,但TEs的识别并不是一项容易的任务,并且开发了许多工具来解决这个问题。为了更好地了解它们的表现,我们测试了几种广泛使用的从头TE检测工具,并比较了它们在模拟数据和精心策划的基因组序列上的表现。正如预期的那样,构建te模型的工具比k-mer计数工具表现得更好,在大多数数据集中,RepeatModeler击败了竞争对手。然而,大多数工具都倾向于以碎片化的方式识别te区域,并且经常无法检测到小te或碎片te。因此,te的识别仍然是一项具有挑战性的工作,需要经验丰富的专家进行大量的手工管理。这些结果将有助于识别与te注释相关的常见问题,并有助于评估使用不同工具获得的结果的可比性。
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来源期刊
Mobile DNA
Mobile DNA GENETICS & HEREDITY-
CiteScore
8.20
自引率
6.10%
发文量
26
审稿时长
11 weeks
期刊介绍: Mobile DNA is an online, peer-reviewed, open access journal that publishes articles providing novel insights into DNA rearrangements in all organisms, ranging from transposition and other types of recombination mechanisms to patterns and processes of mobile element and host genome evolution. In addition, the journal will consider articles on the utility of mobile genetic elements in biotechnological methods and protocols.
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