The Hearing Impairment Ontology: A Tool for Unifying Hearing Impairment Knowledge to Enhance Collaborative Research.

Journal: Genes
PMID: 31766582

Abstract

Hearing impairment (HI) is a common sensory disorder that is defined as the partial or complete inability to detect sound in one or both ears. This diverse pathology is associated with a myriad of phenotypic expressions and can be non-syndromic or syndromic. HI can be caused by various genetic, environmental, and/or unknown factors. Some ontologies capture some HI forms, phenotypes, and syndromes, but there is no comprehensive knowledge portal which includes aspects specific to the HI disease state. This hampers inter-study comparability, integration, and interoperability within and across disciplines. This work describes the HI Ontology (HIO) that was developed based on the Sickle Cell Disease Ontology (SCDO) model. This is a collaboratively developed resource built around the 'Hearing Impairment' concept by a group of experts in different aspects of HI and ontologies. HIO is the first comprehensive, standardized, hierarchical, and logical representation of existing HI knowledge. HIO allows researchers and clinicians alike to readily access standardized HI-related knowledge in a single location and promotes collaborations and HI information sharing, including epidemiological, socio-environmental, biomedical, genetic, and phenotypic information. Furthermore, this ontology illustrates the adaptability of the SCDO framework for use in developing a disease-specific ontology.

Authors

  • Jade Hotchkiss
    Division of Human Genetics, Department of Pathology, University of Cape Town, Health Sciences Campus, Anzio Rd, Observatory, 7925, South Africa.
  • Noluthando Manyisa
    Division of Human Genetics, Department of Pathology, University of Cape Town, Health Sciences Campus, Anzio Rd, Observatory, 7925, South Africa.
  • Samuel Mawuli Adadey
    Division of Human Genetics, Department of Pathology, University of Cape Town, Health Sciences Campus, Anzio Rd, Observatory, 7925, South Africa.
  • Oluwafemi Gabriel Oluwole
    Division of Human Genetics, Department of Pathology, University of Cape Town, Health Sciences Campus, Anzio Rd, Observatory, 7925, South Africa.
  • Edmond Wonkam
    Division of Human Genetics, Department of Pathology, University of Cape Town, Health Sciences Campus, Anzio Rd, Observatory, 7925, South Africa.
  • Khuthala Mnika
    Division of Human Genetics, Department of Pathology, University of Cape Town, Health Sciences Campus, Anzio Rd, Observatory, 7925, South Africa.
  • Abdoulaye Yalcouye
    Division of Human Genetics, Department of Pathology, University of Cape Town, Health Sciences Campus, Anzio Rd, Observatory, 7925, South Africa.
  • Victoria Nembaware
    Division of Human Genetics, Department of Pathology, University of Cape Town, Health Sciences Campus, Anzio Rd, Observatory, 7925, South Africa.
  • Melissa Haendel
    Department of Medical Informatics & Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA.
  • Nicole Vasilevsky
    Library, Oregon Health & Science University, Portland, OR 97239, USA.
  • Nicola J Mulder
    Computational Biology Group, Department of Integrative Biomedical Sciences, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, Cape Town, South Africa and.
  • Simon Jupp
    European Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Trust Genome Campus, Hinxton Cambridge, CB10 1SD UK.
  • Ambroise Wonkam
    Division of Human Genetics, Department of Pathology, University of Cape Town, Health Sciences Campus, Anzio Rd, Observatory, 7925, South Africa.
  • Gaston K Mazandu
    Computational Biology Group, Department of Integrative Biomedical Sciences, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, Cape Town, South Africa and African Institute for Mathematical Sciences (AIMS), Cape Town, South Africa and Cape Coast, Ghana.

Keywords

External Resources

Popular Topics
Recent Journals