Symptoms, Diseases, Genes and Ontologies

This thesis will investigate ways to relate existing medical ontologies to improve the process of requesting genetic testing. The end users are pediatrician doctors at Oslo University Hospital who are requesting genetic testing on newborns. By making a system that efficiently navigates relevant ontologies and allows relating the patient to terms in these, we aim to improve the communication between doctor and genetic lab.

When newborns have genetic diseases, they are often seriously ill, and it can be of paramount importance to diagnose them correctly in a short time. To increase the speed of genetic testing, more precise communication between the doctor and lab is necessary. The thesis will apply semantic technologies, specifically OWL ontologies in the medical domain, and reasoners over these. The idea is that the symptoms and traits of a patient will be expressed using these ontologies, and that the axioms and links to other ontologies should be used to give feedback on possible diagnoses and mutations. There will be both work in modelling in OWL and on software design and development. Imporant questions are:

  • How to model and store the connection between patient and symptom
  • How to efficiently link with other ontologies in a useful way?
  • How to make this all run in a reasonable time?



Emneord: semantic technologies, user interfaces, ontologies, reasoning
Publisert 27. sep. 2018 11:38 - Sist endret 27. sep. 2018 11:38


Omfang (studiepoeng)