Improving the Gene Ontology Resource to Facilitate More Informative Analysis and Interpretation of Alzheimer's Disease Data

Improving the Gene Ontology Resource to Facilitate More Informative Analysis and Interpretation of Alzheimer's Disease Data
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DOI:
10.3390/genes9120593
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发表时间:
2018-12-01
期刊:
影响因子:
3.5
通讯作者:
Lovering, Ruth C.
Lovering, Ruth C.
中科院分区:
生物学3区
文献类型:
--
作者:
Kramarz, Barbara;Roncaglia, Paola;Lovering, Ruth C.

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高通量数据集的分析和解释依赖于获得高质量的生物信息学资源以及处理管道和分析工具。基因本体(GO,geneontology.org)是基因富集分析的主要资源。该项目由英国阿尔茨海默病研究基金会(ARUK)资助,由伦敦大学学院(UCL)生物管理团队领导,旨在通过开发新的神经GO术语来增强GO资源,并使用GO术语来注释与痴呆症相关的基因产物。具体地,与涉及淀粉样蛋白-β和tau的过程相关的蛋白质和蛋白质复合物已经被注释,并且所得注释在GO数据库中表示为“ARUK-UCL”。通过GO术语与痴呆相关蛋白质记录的关联来获取科学文献中呈现的生物学知识; GO本身进行了修订,并添加了新的GO术语。该文献生物定位增加了与神经系统GO术语相关的阿尔茨海默病相关基因产物的数量,例如“淀粉样蛋白-β清除”或“学习或记忆”,以及神经元结构及其隔室。在我们为优先基因产物贡献的总共2055个注释中,526个具有与神经GO术语相关的蛋白质和复合物。为了确保这些描述性注释可以为阿尔茨海默病相关基因产物提供,创建了70多个新的GO术语。在这里,我们描述了如何从这一举措中产生的本体开发和生物定位的改进可以使科学界受益,并增强对痴呆症数据的解释。
The analysis and interpretation of high-throughput datasets relies on access to high-quality bioinformatics resources, as well as processing pipelines and analysis tools. Gene Ontology (GO, geneontology.org) is a major resource for gene enrichment analysis. The aim of this project, funded by the Alzheimer's Research United Kingdom (ARUK) foundation and led by the University College London (UCL) biocuration team, was to enhance the GO resource by developing new neurological GO terms, and use GO terms to annotate gene products associated with dementia. Specifically, proteins and protein complexes relevant to processes involving amyloid-beta and tau have been annotated and the resulting annotations are denoted in GO databases as 'ARUK-UCL'. Biological knowledge presented in the scientific literature was captured through the association of GO terms with dementia-relevant protein records; GO itself was revised, and new GO terms were added. This literature biocuration increased the number of Alzheimer's-relevant gene products that were being associated with neurological GO terms, such as 'amyloid-beta clearance' or 'learning or memory', as well as neuronal structures and their compartments. Of the total 2055 annotations that we contributed for the prioritised gene products, 526 have associated proteins and complexes with neurological GO terms. To ensure that these descriptive annotations could be provided for Alzheimer's-relevant gene products, over 70 new GO terms were created. Here, we describe how the improvements in ontology development and biocuration resulting from this initiative can benefit the scientific community and enhance the interpretation of dementia data.