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Lookup NU author(s): Dr Jennifer Warrender, Professor Anthony MoormanORCiD, Dr Phillip Lord
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
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.
Author(s): Warrender JD, Moorman AV, Lord P
Publication type: Article
Publication status: Published
Journal: Bioinformatics
Year: 2019
Volume: 35
Issue: 24
Pages: 5264-5270
Print publication date: 15/12/2019
Online publication date: 22/06/2019
Acceptance date: 18/06/2019
Date deposited: 05/08/2019
ISSN (print): 1367-4803
ISSN (electronic): 1460-2059
Publisher: Oxford University Press
URL: https://doi.org/10.1093/bioinformatics/btz440
DOI: 10.1093/bioinformatics/btz440
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