Rougemont Quentin, Lucotte Elise, Boyer Loreleï, Jalaber de Dinechin Alexandra, Snirc Alodie, Giraud Tatiana, Rodríguez de la Vega Ricardo C
Ecologie Société et Evolution, CNRS, Universite Paris-Saclay, AgroParisTech, 91198 Gif-sur-Yvette, France.
NAR Genom Bioinform. 2025 Aug 27;7(3):lqaf110. doi: 10.1093/nargab/lqaf110. eCollection 2025 Sep.
New reference genomes and transcriptomes are increasingly available across the tree of life, opening new avenues to tackle exciting questions. However, there are still challenges associated with annotating genomes and inferring evolutionary processes and with a lack of methodological standardisation. Here, we propose a new workflow designed for evolutionary analyses to overcome these challenges, facilitating the detection of recombination suppression and its consequences in terms of rearrangements and transposable element accumulation. To do so, we assemble multiple bioinformatic steps in a single easy-to-use workflow. We combine state-of-the-art tools to detect transposable elements, annotate genomes, infer gene orthology relationships, compute divergence between sequences, infer evolutionary strata (i.e. footprints of stepwise extension of recombination suppression) and their structural rearrangements, and visualise the results. This workflow, called EASYstrata, was applied to reannotate 42 published genomes from fungi. We show in further case examples from a plant and an animal that we recover the same strata as previously described. While this tool was developed with the goal to infer divergence between sex or mating-type chromosomes, it can be applied to any pair of haplotypes whose pattern of divergence is of interest. This workflow will facilitate the study of non-model species for which newly sequenced phased diploid genomes are becoming available.
在整个生命之树中,新的参考基因组和转录组越来越多,为解决令人兴奋的问题开辟了新途径。然而,在对基因组进行注释、推断进化过程以及缺乏方法标准化方面仍然存在挑战。在这里,我们提出了一种专为进化分析设计的新工作流程,以克服这些挑战,便于检测重组抑制及其在重排和转座元件积累方面的后果。为此,我们在一个易于使用的工作流程中整合了多个生物信息学步骤。我们结合了最先进的工具来检测转座元件、注释基因组、推断基因直系同源关系、计算序列间的分歧、推断进化层(即重组抑制逐步扩展的印记)及其结构重排,并可视化结果。这个名为EASYstrata的工作流程被应用于重新注释来自真菌的42个已发表基因组。我们在来自一种植物和一种动物的进一步案例中表明,我们恢复了与先前描述相同的进化层。虽然开发这个工具的目的是推断性染色体或交配型染色体之间的分歧,但它可以应用于任何一对其分歧模式令人感兴趣的单倍型。这个工作流程将促进对非模式物种的研究,对于这些物种,新测序的分阶段二倍体基因组正变得可用。