The anatomy of phenotype ontologies: principles, properties and applications.
The anatomy of phenotype ontologies: principles, properties and applications.
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DOI：
10.1093/bib/bbx035
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发表时间：
2018-09-28
影响因子：
9.5
通讯作者：
Hoehndorf R
中科院分区：
文献类型：
--
作者：
Gkoutos GV;Schofield PN;Hoehndorf R
在过去的十年里，在医学、生态学、牲畜和植物育种等不同领域，基因数据的收集出现了爆炸性增长。随之而来的是处理相关表型数据的挑战，这些数据不仅很大，而且非常多维。因此，表型的计算分析对于我们理解生物科学中基因组数据的生物学意义至关重要。计算表型分析的核心是表型本体论。大量这样的本体已经在许多领域得到了开发，我们现在已经达到了这样一个点，即在这些本体的结构中捕获的知识可以用于集成和分析大型相关数据集。表型和特征本体论框架为表型和相关数据集的正式定义提供了一种方法，并已被证明是我们开发表型数据集成和分析方法的关键。在这里，我们描述了表型捕获的本体论方法的发展和产品，表型本体论的形式内容以及它们的内容如何被计算使用。
The past decade has seen an explosion in the collection of genotype data in domains as diverse as medicine, ecology, livestock and plant breeding. Along with this comes the challenge of dealing with the related phenotype data, which is not only large but also highly multidimensional. Computational analysis of phenotypes has therefore become critical for our ability to understand the biological meaning of genomic data in the biological sciences. At the heart of computational phenotype analysis are the phenotype ontologies. A large number of these ontologies have been developed across many domains, and we are now at a point where the knowledge captured in the structure of these ontologies can be used for the integration and analysis of large interrelated data sets. The Phenotype And Trait Ontology framework provides a method for formal definitions of phenotypes and associated data sets and has proved to be key to our ability to develop methods for the integration and analysis of phenotype data. Here, we describe the development and products of the ontological approach to phenotype capture, the formal content of phenotype ontologies and how their content can be used computationally.
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