使用PATO对人类骨骼表型组进行基于实体/特征的逻辑定义。
Entity/quality-based logical definitions for the human skeletal phenome using PATO.
作者信息
Gkoutos Georgios V, Mungall Chris, Dolken Sandra, Ashburner Michael, Lewis Suzanna, Hancock John, Schofield Paul, Kohler Sebastian, Robinson Peter N
机构信息
Department of Genetics, University of Cambridge, Downing Street, Cambridge, CB2 3EH, England.
出版信息
Annu Int Conf IEEE Eng Med Biol Soc. 2009;2009:7069-72. doi: 10.1109/IEMBS.2009.5333362.
Abstract
This paper describes an approach to providing computer-interpretable logical definitions for the terms of the Human Phenotype Ontology (HPO) using PATO, the ontology of phenotypic qualities, to link terms of the HPO to the anatomic and other entities that are affected by abnormal phenotypic qualities. This approach will allow improved computerized reasoning as well as a facility to compare phenotypes between different species. The PATO mapping will also provide direct links from phenotypic abnormalities and underlying anatomic structures encoded using the Foundational Model of Anatomy, which will be a valuable resource for computational investigations of the links between anatomical components and concepts representing diseases with abnormal phenotypes and associated genes.
摘要
本文描述了一种方法，即利用表型特征本体（PATO）为人类表型本体（HPO）的术语提供计算机可解释的逻辑定义，以将HPO的术语与受异常表型特征影响的解剖学及其他实体相联系。这种方法将有助于改进计算机化推理，并提供一种比较不同物种间表型的工具。PATO映射还将提供从表型异常到使用解剖学基础模型编码的潜在解剖结构的直接链接，这将成为计算研究解剖学成分与代表具有异常表型疾病及相关基因的概念之间联系的宝贵资源。
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