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DIAMOND2GO:用于功能基因组学的快速基因本体分配与富集检测

DIAMOND2GO: rapid Gene Ontology assignment and enrichment detection for functional genomics.

作者信息

Golden Christopher, Studholme David J, Farrer Rhys A

机构信息

Medical Research Council Centre for Medical Mycology at the University of Exeter, Department of Biosciences, Faculty of Health and Life Sciences, Exeter, United Kingdom.

Biosciences, University of Exeter, Exeter, United Kingdom.

出版信息

Front Bioinform. 2025 Aug 15;5:1634042. doi: 10.3389/fbinf.2025.1634042. eCollection 2025.

DOI:10.3389/fbinf.2025.1634042
PMID:40894377
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12394471/
Abstract

DIAMOND2GO (D2GO) is a high-speed toolset for assigning Gene Ontology (GO) terms to genes or proteins based on sequence similarity. Leveraging the ultra-fast alignment capabilities of DIAMOND, which is 100 to 20,000 times faster than BLAST, D2GO enables rapid functional annotation of large-scale datasets. D2GO maps GO terms from pre-annotated sequences in the NCBI non-redundant database to query sequences. During benchmarking, D2GO assigned over 2 million GO terms to 98% of 130,184 predicted human protein isoforms in under 13 min on a standard laptop. In addition to annotation, D2GO includes an enrichment analysis tool that allows users to identify significantly overrepresented GO terms between subsets of sequences. We compared D2GO against two widely used tools, Blast2GO and eggNOG-mapper, and observed substantial differences in the number and type of annotations produced. These discrepancies reflect varying sensitivities and specificities across tools and suggest that using multiple methods in tandem may improve overall annotation coverage. D2GO is open-source and freely available under the MIT license at https://github.com/rhysf/DIAMOND2GO.

摘要

DIAMOND2GO(D2GO)是一种高速工具集,用于基于序列相似性为基因或蛋白质分配基因本体(GO)术语。D2GO利用DIAMOND的超快速比对能力,其速度比BLAST快100到20000倍,能够对大规模数据集进行快速功能注释。D2GO将NCBI非冗余数据库中预先注释序列的GO术语映射到查询序列。在基准测试中,D2GO在一台标准笔记本电脑上,不到13分钟就为130184个预测的人类蛋白质异构体中的98%分配了超过200万个GO术语。除了注释,D2GO还包括一个富集分析工具,允许用户识别序列子集之间显著过度表达的GO术语。我们将D2GO与两个广泛使用的工具Blast2GO和eggNOG-mapper进行了比较,发现生成的注释数量和类型存在显著差异。这些差异反映了不同工具之间不同的敏感性和特异性,表明串联使用多种方法可能会提高整体注释覆盖率。D2GO是开源的,根据麻省理工学院许可可在https://github.com/rhysf/DIAMOND2GO上免费获取。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/300c/12394471/cce0a9223fec/fbinf-05-1634042-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/300c/12394471/f644f525eadc/fbinf-05-1634042-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/300c/12394471/cce0a9223fec/fbinf-05-1634042-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/300c/12394471/f644f525eadc/fbinf-05-1634042-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/300c/12394471/cce0a9223fec/fbinf-05-1634042-g002.jpg

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本文引用的文献

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GOReverseLookup: A gene ontology reverse lookup tool.基因本体反向查找工具:一种基因本体反向查找工具。
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The CAFA challenge reports improved protein function prediction and new functional annotations for hundreds of genes through experimental screens.CAFA 挑战赛报告称,通过实验筛选,提高了数百个基因的蛋白质功能预测和新的功能注释。
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Gene Ontology Causal Activity Modeling (GO-CAM) moves beyond GO annotations to structured descriptions of biological functions and systems.基因本体论因果活动建模(GO-CAM)超越了 GO 注释,实现了对生物功能和系统的结构化描述。
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Genome Biol. 2019 May 16;20(1):92. doi: 10.1186/s13059-019-1715-2.
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Predicting human protein function with multi-task deep neural networks.用多任务深度神经网络预测人类蛋白质功能。
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GOLabeler: improving sequence-based large-scale protein function prediction by learning to rank.GOLabeler:通过学习排序提高基于序列的大规模蛋白质功能预测。
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