Ontology based Framework for Hereditary Disease Identification Sumathi V. P.*, Kousalya K.**, Vanitha V.* *Department of Computer Science and Engineering, Kumaraguru College of Technology, Coimbatore, Tamilnadu, India **Department of Computer Science and Engineering, Kongu Engineering College, Perundurai, Tamilnadu, India Online published on 9 November, 2016. Abstract Health plays an important role in the life of every individual world and it is a major concern all over the world. Healthcare systems have gained significant attention and growth in the recent years. Healthcare system needs mechanism to store health details in electronic form. Effective healthcare systems can be built by integrating heterogeneous information like patient details, family history, disease, and symptoms. The decision system for identification of hereditary disease using family members’ medical record is not available in existing environment. Due to the heterogonous formats available in health records and lack of common vocabulary, the accessibility and utility of the big data of healthcare is very minimal for health data analytics and decision support systems. This work proposes a framework that identifies hereditary disease based on family members’ health record. To identify close blood relatives of a patient a complete semantic knowledge base, rule base for relationship type identification and health record ontologies are used. Automatic decision making capability of the proposed framework helps to provide patient specific assessments and recommendations based on family medical history. The performance of this work is measured in terms of precision, sensitivity and specificity. The obtained precision and sensitivity is between seventy to eighty percent. Top Keywords Hereditary disease, Ontology, Rule based reasoning, Case based reasoning, clinical pedigree, family medical history. Top |