PaReBrick: PArallel REarrangements and BReaks identification toolkit

• DOI: 10.1093/bioinformatics/btab691
• Publication Date: 2021-09-30T16:18:42Z
• Authors: Alexey Zabelkin; Yulia Yakovleva; Olga Bochkareva; Nikita Alexeev
• Keywords: 0301 basic medicine; Original Paper; 03 medical and health sciences; Synteny; Antigenic Variation; Phylogeny; Genome, Bacterial; Software

Abstract

Motivation High plasticity of bacterial genomes is provided by numerous mechanisms including horizontal gene transfer and recombination via numerous flanking repeats. Genome rearrangements such as inversions, deletions, insertions and duplications may independently occur in different strains, providing parallel adaptation or phenotypic diversity. Specifically, such rearrangements might be responsible for virulence, antibiotic resistance and antigenic variation. However, identification of such events requires laborious manual inspection and verification of phyletic pattern consistency.

Results Here, we define the term ‘parallel rearrangements’ as events that occur independently in phylogenetically distant bacterial strains and present a formalization of the problem of parallel rearrangements calling. We implement an algorithmic solution for the identification of parallel rearrangements in bacterial populations as a tool PaReBrick. The tool takes a collection of strains represented as a sequence of oriented synteny blocks and a phylogenetic tree as input data. It identifies rearrangements, tests them for consistency with a tree, and sorts the events by their parallelism score. The tool provides diagrams of the neighbors for each block of interest, allowing the detection of horizontally transferred blocks or their extra copies and the inversions in which copied blocks are involved. We demonstrated PaReBrick’s efficiency and accuracy and showed its potential to detect genome rearrangements responsible for pathogenicity and adaptation in bacterial genomes.

Availability and implementation PaReBrick is written in Python and is available on GitHub: https://github.com/ctlab/parallel-rearrangements.

Supplementary information Supplementary data are available at Bioinformatics online.