Abstract

BackgroundThe insertion sequence elements (IS elements) represent the smallest and the most abundant mobile elements in prokaryotic genomes. It has been shown that they play a significant role in genome organization and evolution. To better understand their function in the host genome, it is desirable to have an effective detection and annotation tool. This need becomes even more crucial when considering rapid-growing genomic and metagenomic data. The existing tools for IS elements detection and annotation are usually based on comparing sequence similarity with a database of known IS families. Thus, they have limited ability to discover distant and putative novel IS elements.ResultsIn this paper, we present digIS, a software tool based on profile hidden Markov models assembled from catalytic domains of transposases. It shows a very good performance in detecting known IS elements when tested on datasets with manually curated annotation. The main contribution of digIS is in its ability to detect distant and putative novel IS elements while maintaining a moderate level of false positives. In this category it outperforms existing tools, especially when tested on large datasets of archaeal and bacterial genomes.ConclusionWe provide digIS, a software tool using a novel approach based on manually curated profile hidden Markov models, which is able to detect distant and putative novel IS elements. Although digIS can find known IS elements as well, we expect it to be used primarily by scientists interested in finding novel IS elements. The tool is available at https://github.com/janka2012/digIS.

Highlights

  • The insertion sequence elements (IS elements) represent the smallest and the most abundant mobile elements in prokaryotic genomes

  • We analyzed the false positive (FP) in more detail as follows: First, FPs representing fragments/: Open reading frame (ORF) of the same : Insertion sequence (IS) element were merged as described at the beginning of this section

  • In this paper we present a novel approach for IS elements detection, that is implemented in the form of digIS tool

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Summary

Introduction

The insertion sequence elements (IS elements) represent the smallest and the most abundant mobile elements in prokaryotic genomes. It has been shown that they play a significant role in genome organization and evolution To better understand their function in the host genome, it is desirable to have an effective detection and annotation tool. The existing tools for IS elements detection and annotation are usually based on comparing sequence similarity with a database of known IS families. ISs are widespread in prokaryotic genomes and may occur in high copy numbers They play an essential role in genome evolution, Puterová and Martínek BMC Bioinformatics (2021) 22:258 structure, and host-genome adaptability. Due to their movement ability, IS elements represent mutagenic agents and can: cause modulation of expression of neighboring genes, affect virulence, change xenobiotic or antimicrobial resistance, or modulate metabolic activities. Detailed information on IS element function in host genomes can be found in recent reviews [1, 2]

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