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A fully computational and reasonable representation for karyotypes

Lookup NU author(s): Dr Jennifer Warrender, Professor Anthony Moorman, Dr Phillip Lord

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


Abstract

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.


Publication metadata

Author(s): Warrender JD, Moorman AV, Lord P

Publication type: Article

Publication status: Published

Journal: Bioinformatics

Year: 2019

Pages: ePub ahead of Print

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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