Lawrence Berkeley National Laboratory, Genomics Division, Berkeley, CA 94720, USA.
BMC Bioinformatics. 2014 May 21;15:155. doi: 10.1186/1471-2105-15-155.
The Gene Ontology project integrates data about the function of gene products across a diverse range of organisms, allowing the transfer of knowledge from model organisms to humans, and enabling computational analyses for interpretation of high-throughput experimental and clinical data. The core data structure is the annotation, an association between a gene product and a term from one of the three ontologies comprising the GO. Historically, it has not been possible to provide additional information about the context of a GO term, such as the target gene or the location of a molecular function. This has limited the specificity of knowledge that can be expressed by GO annotations.
The GO Consortium has introduced annotation extensions that enable manually curated GO annotations to capture additional contextual details. Extensions represent effector-target relationships such as localization dependencies, substrates of protein modifiers and regulation targets of signaling pathways and transcription factors as well as spatial and temporal aspects of processes such as cell or tissue type or developmental stage. We describe the content and structure of annotation extensions, provide examples, and summarize the current usage of annotation extensions.
The additional contextual information captured by annotation extensions improves the utility of functional annotation by representing dependencies between annotations to terms in the different ontologies of GO, external ontologies, or an organism's gene products. These enhanced annotations can also support sophisticated queries and reasoning, and will provide curated, directional links between many gene products to support pathway and network reconstruction.
基因本体论(GO)项目整合了来自多种生物的基因产物功能数据,实现了从模式生物到人类的知识转移,并支持对高通量实验和临床数据进行计算分析和解释。核心数据结构是注释,即将基因产物与 GO 三个本体论之一的术语相关联。从历史上看,GO 术语的上下文信息(如靶基因或分子功能的位置)无法提供额外信息。这限制了 GO 注释可以表达的知识的特异性。
GO 联盟引入了注释扩展,使人工注释能够捕获更多的上下文细节。扩展代表效应物-靶标关系,如定位依赖性、蛋白修饰底物、信号通路和转录因子的调控靶标以及细胞或组织类型或发育阶段等过程的时空方面。我们描述了注释扩展的内容和结构,提供了示例,并总结了当前注释扩展的使用情况。
注释扩展捕获的附加上下文信息通过表示 GO 不同本体论、外部本体论或生物体基因产物之间的术语的注释之间的依赖关系,提高了功能注释的实用性。这些增强的注释还可以支持复杂的查询和推理,并将提供经过精心整理的、有方向的基因产物之间的链接,以支持途径和网络的重建。