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ExOrthist: a tool to infer exon orthologies at any evolutionary distance

Yamile Márquez, Federica Mantica, Luca Cozzuto, Demián Burguera, Antonio Hermoso, Julia Ponomarenko, Scott William Roy, Manuel Irimia

2021Genome biology22 citationsDOIOpen Access PDF

Abstract

Several bioinformatic tools have been developed for genome-wide identification of orthologous and paralogous genes. However, no corresponding tool allows the detection of exon homology relationships. Here, we present ExOrthist, a fully reproducible Nextflow-based software enabling inference of exon homologs and orthogroups, visualization of evolution of exon-intron structures, and assessment of conservation of alternative splicing patterns. ExOrthist evaluates exon sequence conservation and considers the surrounding exon-intron context to derive genome-wide multi-species exon homologies at any evolutionary distance. We demonstrate its use in different evolutionary scenarios: whole genome duplication in frogs and convergence of Nova-regulated splicing networks ( https://github.com/biocorecrg/ExOrthist ).

Topics & Concepts

BiologyExonIntronGenomeGeneticsComputational biologyExon trappingRNA splicingExon shufflingGene duplicationContext (archaeology)Homology (biology)Tandem exon duplicationEvolutionary biologyGeneAlternative splicingRNAPaleontologyRNA and protein synthesis mechanismsRNA Research and SplicingRNA modifications and cancer