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线虫基因组组装变异及其对基因发现的影响。

Genome assembly variation and its implications for gene discovery in nematodes.

作者信息

Mariene Grace M, Wasmuth James D

机构信息

Faculty of Veterinary Medicine, University of Calgary, Calgary, Alberta, Canada; Host-Parasite Interactions Research Training Network, University of Calgary, Calgary, Alberta, Canada.

Faculty of Veterinary Medicine, University of Calgary, Calgary, Alberta, Canada; Host-Parasite Interactions Research Training Network, University of Calgary, Calgary, Alberta, Canada.

出版信息

Int J Parasitol. 2025 Apr;55(5):239-252. doi: 10.1016/j.ijpara.2025.01.004. Epub 2025 Jan 19.

Abstract

Genome assemblers are a critical component of genome science, but the choice of assembly software and protocols can be daunting. Here, we investigate genome assembly variation and its implications for gene discovery across three nematode species-Caenorhabditis bovis, Haemonchus contortus, and Heligmosomoides bakeri-highlighting the critical interplay between assembly choice and downstream genomic analysis. Selecting commonly used genome assemblers, we generated multiple assemblies for each species, analyzing their structure, completeness, and effect on gene family analysis. Our findings demonstrate that assembly variations can significantly affect gene family composition, with notable differences in gene families important in anthelmintic discovery and immunomodulation. Despite broadly similar performance using various assembly metrics, comparisons of assemblies with a single species revealed underlying structural rearrangements and inconsistencies in gene content, which would affect downstream analyses. This emphasizes the need for continuous refinement of genome assemblies and their annotations.

摘要

基因组组装软件是基因组科学的关键组成部分,但组装软件和协议的选择可能令人望而生畏。在这里,我们研究了三种线虫——牛秀丽隐杆线虫、捻转血矛线虫和巴氏细颈线虫的基因组组装变异及其对基因发现的影响,突出了组装选择与下游基因组分析之间的关键相互作用。我们选择了常用的基因组组装软件,为每个物种生成了多个组装结果,分析了它们的结构、完整性以及对基因家族分析的影响。我们的研究结果表明,组装变异会显著影响基因家族组成,在抗蠕虫发现和免疫调节中重要的基因家族存在显著差异。尽管使用各种组装指标时性能大致相似,但对单个物种的组装结果进行比较时,发现了潜在的结构重排和基因含量不一致的情况,这会影响下游分析。这强调了持续完善基因组组装及其注释的必要性。

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