Park Carissa A, Bello Susan M, Smith Cynthia L, Hu Zhi-Liang, Munzenmaier Diane H, Nigam Rajni, Smith Jennifer R, Shimoyama Mary, Eppig Janan T, Reecy James M
Department of Animal Science, Iowa State University, Ames, IA, USA.
J Biomed Semantics. 2013 Aug 9;4(1):13. doi: 10.1186/2041-1480-4-13.
The use of ontologies to standardize biological data and facilitate comparisons among datasets has steadily grown as the complexity and amount of available data have increased. Despite the numerous ontologies available, one area currently lacking a robust ontology is the description of vertebrate traits. A trait is defined as any measurable or observable characteristic pertaining to an organism or any of its substructures. While there are several ontologies to describe entities and processes in phenotypes, diseases, and clinical measurements, one has not been developed for vertebrate traits; the Vertebrate Trait Ontology (VT) was created to fill this void.
Significant inconsistencies in trait nomenclature exist in the literature, and additional difficulties arise when trait data are compared across species. The VT is a unified trait vocabulary created to aid in the transfer of data within and between species and to facilitate investigation of the genetic basis of traits. Trait information provides a valuable link between the measurements that are used to assess the trait, the phenotypes related to the traits, and the diseases associated with one or more phenotypes. Because multiple clinical and morphological measurements are often used to assess a single trait, and a single measurement can be used to assess multiple physiological processes, providing investigators with standardized annotations for trait data will allow them to investigate connections among these data types.
The annotation of genomic data with ontology terms provides unique opportunities for data mining and analysis. Links between data in disparate databases can be identified and explored, a strategy that is particularly useful for cross-species comparisons or in situations involving inconsistent terminology. The VT provides a common basis for the description of traits in multiple vertebrate species. It is being used in the Rat Genome Database and Animal QTL Database for annotation of QTL data for rat, cattle, chicken, swine, sheep, and rainbow trout, and in the Mouse Phenome Database to annotate strain characterization data. In these databases, data are also cross-referenced to applicable terms from other ontologies, providing additional avenues for data mining and analysis. The ontology is available at http://bioportal.bioontology.org/ontologies/50138.
随着可用数据的复杂性和数量不断增加,利用本体来标准化生物数据并促进数据集之间的比较已稳步发展。尽管有众多可用的本体,但目前在脊椎动物性状描述方面仍缺乏一个强大的本体。性状被定义为与生物体或其任何子结构相关的任何可测量或可观察的特征。虽然有几个本体用于描述表型、疾病和临床测量中的实体和过程,但尚未开发出用于脊椎动物性状的本体;脊椎动物性状本体(VT)就是为填补这一空白而创建的。
文献中存在性状命名的显著不一致,并且在跨物种比较性状数据时会出现其他困难。VT是一个统一的性状词汇表,旨在帮助物种内部和物种之间的数据传递,并促进对性状遗传基础的研究。性状信息在用于评估性状的测量、与性状相关的表型以及与一种或多种表型相关的疾病之间提供了有价值的联系。由于通常使用多种临床和形态学测量来评估单个性状,并且单个测量可用于评估多个生理过程,为研究人员提供性状数据的标准化注释将使他们能够研究这些数据类型之间的联系。
用本体术语注释基因组数据为数据挖掘和分析提供了独特的机会。可以识别和探索不同数据库中数据之间的联系,这一策略在跨物种比较或涉及术语不一致的情况下特别有用。VT为描述多种脊椎动物物种的性状提供了共同基础。它正在大鼠基因组数据库和动物QTL数据库中用于注释大鼠、牛、鸡、猪、绵羊和虹鳟鱼的QTL数据,并在小鼠表型数据库中用于注释品系特征数据。在这些数据库中,数据还与其他本体的适用术语进行交叉引用,为数据挖掘和分析提供了额外途径。该本体可在http://bioportal.bioontology.org/ontologies/50138获取。