Scaffolding the Mitochondrial Disease Ontology from extant knowledge sources

TL;DR

This paper presents a method for efficiently constructing a mitochondrial disease ontology by leveraging existing biomedical knowledge sources using the Tawny-OWL environment.

Contribution

The authors introduce a novel approach to scaffold biomedical ontologies from existing data sources, reducing manual effort in ontology development.

Findings

Successful construction of a mitochondrial ontology using the proposed method

Reduction in manual curation effort demonstrated

Integration of multiple knowledge sources achieved

Abstract

Bio-medical ontologies can contain a large number of concepts. Often many of these concepts are very similar to each other, and similar or identical to concepts found in other bio-medical databases. This presents both a challenge and opportunity: maintaining many similar concepts is tedious and fastidious work, which could be substantially reduced if the data could be derived from pre-existing knowledge sources. In this paper, we describe how we have achieved this for an ontology of the mitochondria using our novel ontology development environment, the Tawny-OWL library.