European Bioinformatics Institute (EMBL-EBI), Hinxton, Cambridgeshire, CB10 1SD, UK.
Renaissance Computing Institute, University of North Carolina, Chapel Hill, NC, 27517, USA.
Mamm Genome. 2023 Sep;34(3):364-378. doi: 10.1007/s00335-023-09992-1. Epub 2023 Apr 19.
Existing phenotype ontologies were originally developed to represent phenotypes that manifest as a character state in relation to a wild-type or other reference. However, these do not include the phenotypic trait or attribute categories required for the annotation of genome-wide association studies (GWAS), Quantitative Trait Loci (QTL) mappings or any population-focussed measurable trait data. The integration of trait and biological attribute information with an ever increasing body of chemical, environmental and biological data greatly facilitates computational analyses and it is also highly relevant to biomedical and clinical applications. The Ontology of Biological Attributes (OBA) is a formalised, species-independent collection of interoperable phenotypic trait categories that is intended to fulfil a data integration role. OBA is a standardised representational framework for observable attributes that are characteristics of biological entities, organisms, or parts of organisms. OBA has a modular design which provides several benefits for users and data integrators, including an automated and meaningful classification of trait terms computed on the basis of logical inferences drawn from domain-specific ontologies for cells, anatomical and other relevant entities. The logical axioms in OBA also provide a previously missing bridge that can computationally link Mendelian phenotypes with GWAS and quantitative traits. The term components in OBA provide semantic links and enable knowledge and data integration across specialised research community boundaries, thereby breaking silos.
现有的表型本体最初是为了表示与野生型或其他参考相比表现出特征状态的表型而开发的。然而,这些本体并不包括全基因组关联研究(GWAS)、数量性状位点(QTL)图谱或任何以人群为重点的可测量特征数据所需的表型特征或属性类别。将特征和生物属性信息与不断增加的化学、环境和生物数据相结合,极大地促进了计算分析,并且与生物医学和临床应用也高度相关。生物属性本体(OBA)是一个形式化的、与物种无关的可互操作的表型特征类别集合,旨在发挥数据集成的作用。OBA 是用于可观察属性的标准化表示框架,这些属性是生物实体、生物体或生物体部分的特征。OBA 具有模块化设计,为用户和数据集成器提供了多个好处,包括基于细胞、解剖学和其他相关实体的特定领域本体进行逻辑推理自动计算得出的特征术语的分类和有意义的分类。OBA 中的逻辑公理还提供了一个以前缺失的桥梁,可以在计算上连接孟德尔表型与 GWAS 和数量性状。OBA 中的术语组件提供语义链接,并能够在专门的研究社区边界内进行知识和数据集成,从而打破孤岛。