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GJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon
Open AccessArticle

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

1
Division of Human Genetics, Department of Pathology, University of Cape Town, Health Sciences Campus, Anzio Rd, Observatory 7925, South Africa
2
Department of Neurology, Point G Teaching Hospital, University of Sciences, Techniques and Technology, Bamako, Mali
3
West African Centre for Cell Biology of Infectious Pathogens, College of Basic and Applied Sciences, University of Ghana, Accra, Ghana
4
School of Medicine, Oregon Health & Science University, Portland, OR 97217, USA
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Computational Biology Division, Department of Integrative Biomedical Sciences, University of Cape Town, Health Sciences Campus. Anzio Rd, Observatory 7925, South Africa
6
European Bioinformatics Institute (EMBL-EBI), Cambridge CB10 1SD, UK
7
African Institute for Mathematical Sciences, 5-7 Melrose Road, Muizenberg 7945, Cape Town, South Africa
*
Authors to whom correspondence should be addressed.
First two authors are joint first author.
Genes 2019, 10(12), 960; https://doi.org/10.3390/genes10120960
Received: 18 September 2019 / Revised: 31 October 2019 / Accepted: 11 November 2019 / Published: 21 November 2019
(This article belongs to the Special Issue Genetic Epidemiology of Deafness)
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. View Full-Text
Keywords: hearing impairment; hearing loss; ontology; data harmonization; meta-analysis hearing impairment; hearing loss; ontology; data harmonization; meta-analysis
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Hotchkiss, J.; Manyisa, N.; Mawuli Adadey, S.; Oluwole, O.G.; Wonkam, E.; Mnika, K.; Yalcouye, A.; Nembaware, V.; Haendel, M.; Vasilevsky, N.; Mulder, N.J.; Jupp, S.; Wonkam, A.; K. Mazandu, G. The Hearing Impairment Ontology: A Tool for Unifying Hearing Impairment Knowledge to Enhance Collaborative Research. Genes 2019, 10, 960.

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