SUMMARY The human karyotype has been used as a mechanism for describing and detecting gross abnormalities in the genome for many decades. It is used both for routine diagnostic purposes and for research to further our understanding of the causes of disease. Despite these important applications there has been no rigorous computational representation of the karyotype; rather an informal, string-based representation is used, making it hard to check, organize and search data of this form. In this article, we describe our use of OWL, the Ontology Web Language, to generate a fully computational representation of the karyotype; the development of this ontology represents a significant advance from the traditional bioinformatics use for tagging and navigation and has necessitated the development of a new ontology development environment called Tawny-OWL. AVAILABILITY AND IMPLEMENTATION The Karyotype Ontology and associated Tawny-OWL source code is available on GitHub at https://github.com/jaydchan/tawny-karyotype, under a LGPL License, Version 3.0.

中文翻译：

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核型的完整计算和合理表示。

发明内容数十年来，人类核型已被用作描述和检测基因组中总体异常的机制。它既可用于常规诊断目的，也可用于研究，以进一步了解疾病的原因。尽管有这些重要的应用，但对核型没有严格的计算表示。而是使用非正式的，基于字符串的表示形式，这使得很难检查，组织和搜索此形式的数据。在本文中，我们描述了我们使用本体网络语言OWL来生成核型的完整计算表示的方法。这种本体的发展代表了传统的生物信息学用于标记和导航的重大进步，并且有必要开发一种称为Tawny-OWL的新本体开发环境。