Genetics. 2023 May 4;224(1). doi: 10.1093/genetics/iyad031.
The Gene Ontology (GO) knowledgebase (http://geneontology.org) is a comprehensive resource concerning the functions of genes and gene products (proteins and noncoding RNAs). GO annotations cover genes from organisms across the tree of life as well as viruses, though most gene function knowledge currently derives from experiments carried out in a relatively small number of model organisms. Here, we provide an updated overview of the GO knowledgebase, as well as the efforts of the broad, international consortium of scientists that develops, maintains, and updates the GO knowledgebase. The GO knowledgebase consists of three components: (1) the GO-a computational knowledge structure describing the functional characteristics of genes; (2) GO annotations-evidence-supported statements asserting that a specific gene product has a particular functional characteristic; and (3) GO Causal Activity Models (GO-CAMs)-mechanistic models of molecular "pathways" (GO biological processes) created by linking multiple GO annotations using defined relations. Each of these components is continually expanded, revised, and updated in response to newly published discoveries and receives extensive QA checks, reviews, and user feedback. For each of these components, we provide a description of the current contents, recent developments to keep the knowledgebase up to date with new discoveries, and guidance on how users can best make use of the data that we provide. We conclude with future directions for the project.
GO 本体(http://geneontology.org)是一个关于基因和基因产物(蛋白质和非编码 RNA)功能的综合资源。GO 注释涵盖了来自生命之树中各种生物以及病毒的基因,尽管目前大多数基因功能知识都来自于少数几个模式生物中进行的实验。在这里,我们提供了 GO 本体的最新概述,以及开发、维护和更新 GO 本体的广泛的国际科学家联盟的努力。GO 本体由三个组件组成:(1)GO 计算知识结构,描述基因的功能特征;(2)GO 注释-支持断言特定基因产物具有特定功能特征的证据陈述;(3)GO 因果活动模型(GO-CAMs)-通过使用定义的关系将多个 GO 注释链接起来创建的分子“途径”(GO 生物学过程)的机制模型。这些组件中的每一个都在不断扩展、修订和更新,以响应新发表的发现,并接受广泛的 QA 检查、审查和用户反馈。对于每个组件,我们提供了当前内容的描述、使知识库与新发现保持同步的最新发展,以及关于用户如何最好地利用我们提供的数据的指导。我们以项目的未来方向结束。