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The Karyotype Ontology: a computational representation for human cytogenetic patterns

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


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The karyotype ontology describes the human chromosome complement as determined cytogenetically, and is designed as an initial step toward the goal of replacing the current system which is based on semantically meaningful strings. This ontology uses a novel, semi-programmatic methodology based around the tawny library to construct many classes rapidly. Here, we describe our use case, methodology and the event-based approach that we use to represent karyotypes.

Publication metadata

Author(s): Warrender JD, Lord P

Publication type: Conference Proceedings (inc. Abstract)

Publication status: Published

Conference Name: Bio-Ontologies

Year of Conference: 2013