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A biomedical ontology on genetic disease

  • Aamna Iqtidar
  • , Abdul Wahab Muzaffar
  • , Usman Qamar
  • , Saad Rehman

Research output: Chapter in Book/Report/Conference proceedingConference contributionpeer-review

1 Scopus citations

Abstract

Contemporary researches have revealed that most of the diseases are genetic. It is very important to mine the relation between gene and disease. Ontology is the best method to show the concepts and their relations. This research paper focuses on the development of ontology for the domain of Genetic Diseases. The data is extracted from UMLS. We developed this ontology on Protégé tool and also a live portal (link: http://62.151.179.113/ontology) is developed for the ontology to facilitate the end users and clinical researchers. The resultant ontology is evaluated by domain experts and results are reported in this paper.

Original languageEnglish
Title of host publicationProceedings of the 2nd International Conference on Internet of Things and Cloud Computing, ICC 2017
EditorsHani Hamdan, Djallel Eddine Boubiche, Faouzi Hidoussi
PublisherAssociation for Computing Machinery
ISBN (Electronic)9781450347747
DOIs
StatePublished - 22 Mar 2017
Externally publishedYes

Publication series

NameACM International Conference Proceeding Series

Bibliographical note

Publisher Copyright:
© 2017 ACM.

Keywords

  • Genetic Diseases
  • Genetic Disorders
  • Ontology
  • Protégé
  • UMLS

ASJC Scopus subject areas

  • Software
  • Human-Computer Interaction
  • Computer Vision and Pattern Recognition
  • Computer Networks and Communications

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