Department of Physiology and Biophysics, University of Washington, Seattle, WA 98195, USA.
Department of Microbiology, Immunology, and Molecular Genetics, University of California, Los Angeles, CA 90095, USA.
Philos Trans R Soc Lond B Biol Sci. 2024 Jan 15;379(1894):20220443. doi: 10.1098/rstb.2022.0443. Epub 2023 Nov 27.
Advances in the functional genomics and bioinformatics toolkits for species have positioned these species as genetically tractable model systems for gastrointestinal parasitic nematodes. As community interest in mechanistic studies of species continues to grow, publicly accessible reference genomes and associated genome annotations are critical resources for researchers. Genome annotations for multiple species are broadly available via the WormBase and WormBase ParaSite online repositories. However, a recent phylogenetic analysis of the receptor-type guanylate cyclase (rGC) gene family in two species highlights the potential for errors in a large percentage of current gene models. Here, we present three examples of gene annotation updates within the rGC gene family; each example illustrates a type of error that may occur frequently within the annotation data for genomes. We also extend our analysis to 405 previously curated genes to confirm that gene model errors are found at high rates across gene families. Finally, we introduce a standard manual curation workflow for assessing gene annotation quality and generating corrections, and we discuss how it may be used to facilitate community-driven curation of parasitic nematode biodata. This article is part of the Theo Murphy meeting issue ': omics to worm-free populations'.
在功能基因组学和生物信息学工具方面的进展使这些物种成为遗传上易于处理的胃肠道寄生线虫模型系统。随着社区对 物种机制研究的兴趣不断增长,可公开访问的参考基因组和相关的基因组注释是研究人员的关键资源。通过 WormBase 和 WormBase ParaSite 在线存储库,可以广泛获得多个 物种的基因组注释。然而,最近对两种 物种的受体型鸟苷酸环化酶(rGC)基因家族的系统发育分析突出表明,当前大部分 基因模型都存在潜在错误。在这里,我们在 rGC 基因家族内展示了三个基因注释更新的例子;每个例子都说明了注释数据中可能经常出现的一种错误类型。我们还将我们的分析扩展到 405 个以前经过精心整理的 基因,以确认基因模型错误在基因家族中以很高的速率存在。最后,我们引入了一种标准的手动注释质量评估和更正工作流程,并讨论了如何将其用于促进寄生虫线虫生物数据的社区驱动整理。本文是 Theo Murphy 会议议题“从组学到无虫种群”的一部分。