Cargando…

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

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, envi...

Descripción completa

Detalles Bibliográficos
Autores principales: Hotchkiss, Jade, Manyisa, Noluthando, Mawuli Adadey, Samuel, Oluwole, Oluwafemi Gabriel, Wonkam, Edmond, Mnika, Khuthala, Yalcouye, Abdoulaye, Nembaware, Victoria, Haendel, Melissa, Vasilevsky, Nicole, Mulder, Nicola J., Jupp, Simon, Wonkam, Ambroise, K. Mazandu, Gaston
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947307/
https://www.ncbi.nlm.nih.gov/pubmed/31766582
http://dx.doi.org/10.3390/genes10120960
_version_ 1783485520187228160
author Hotchkiss, Jade
Manyisa, Noluthando
Mawuli Adadey, Samuel
Oluwole, Oluwafemi Gabriel
Wonkam, Edmond
Mnika, Khuthala
Yalcouye, Abdoulaye
Nembaware, Victoria
Haendel, Melissa
Vasilevsky, Nicole
Mulder, Nicola J.
Jupp, Simon
Wonkam, Ambroise
K. Mazandu, Gaston
author_facet Hotchkiss, Jade
Manyisa, Noluthando
Mawuli Adadey, Samuel
Oluwole, Oluwafemi Gabriel
Wonkam, Edmond
Mnika, Khuthala
Yalcouye, Abdoulaye
Nembaware, Victoria
Haendel, Melissa
Vasilevsky, Nicole
Mulder, Nicola J.
Jupp, Simon
Wonkam, Ambroise
K. Mazandu, Gaston
author_sort Hotchkiss, Jade
collection PubMed
description 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.
format Online
Article
Text
id pubmed-6947307
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-69473072020-01-13 The Hearing Impairment Ontology: A Tool for Unifying Hearing Impairment Knowledge to Enhance Collaborative Research Hotchkiss, Jade Manyisa, Noluthando Mawuli Adadey, Samuel Oluwole, Oluwafemi Gabriel Wonkam, Edmond Mnika, Khuthala Yalcouye, Abdoulaye Nembaware, Victoria Haendel, Melissa Vasilevsky, Nicole Mulder, Nicola J. Jupp, Simon Wonkam, Ambroise K. Mazandu, Gaston Genes (Basel) Article 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. MDPI 2019-11-21 /pmc/articles/PMC6947307/ /pubmed/31766582 http://dx.doi.org/10.3390/genes10120960 Text en © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Hotchkiss, Jade
Manyisa, Noluthando
Mawuli Adadey, Samuel
Oluwole, Oluwafemi Gabriel
Wonkam, Edmond
Mnika, Khuthala
Yalcouye, Abdoulaye
Nembaware, Victoria
Haendel, Melissa
Vasilevsky, Nicole
Mulder, Nicola J.
Jupp, Simon
Wonkam, Ambroise
K. Mazandu, Gaston
The Hearing Impairment Ontology: A Tool for Unifying Hearing Impairment Knowledge to Enhance Collaborative Research
title The Hearing Impairment Ontology: A Tool for Unifying Hearing Impairment Knowledge to Enhance Collaborative Research
title_full The Hearing Impairment Ontology: A Tool for Unifying Hearing Impairment Knowledge to Enhance Collaborative Research
title_fullStr The Hearing Impairment Ontology: A Tool for Unifying Hearing Impairment Knowledge to Enhance Collaborative Research
title_full_unstemmed The Hearing Impairment Ontology: A Tool for Unifying Hearing Impairment Knowledge to Enhance Collaborative Research
title_short The Hearing Impairment Ontology: A Tool for Unifying Hearing Impairment Knowledge to Enhance Collaborative Research
title_sort hearing impairment ontology: a tool for unifying hearing impairment knowledge to enhance collaborative research
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947307/
https://www.ncbi.nlm.nih.gov/pubmed/31766582
http://dx.doi.org/10.3390/genes10120960
work_keys_str_mv AT hotchkissjade thehearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT manyisanoluthando thehearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT mawuliadadeysamuel thehearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT oluwoleoluwafemigabriel thehearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT wonkamedmond thehearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT mnikakhuthala thehearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT yalcouyeabdoulaye thehearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT nembawarevictoria thehearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT haendelmelissa thehearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT vasilevskynicole thehearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT muldernicolaj thehearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT juppsimon thehearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT wonkamambroise thehearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT kmazandugaston thehearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT hotchkissjade hearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT manyisanoluthando hearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT mawuliadadeysamuel hearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT oluwoleoluwafemigabriel hearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT wonkamedmond hearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT mnikakhuthala hearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT yalcouyeabdoulaye hearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT nembawarevictoria hearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT haendelmelissa hearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT vasilevskynicole hearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT muldernicolaj hearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT juppsimon hearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT wonkamambroise hearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch
AT kmazandugaston hearingimpairmentontologyatoolforunifyinghearingimpairmentknowledgetoenhancecollaborativeresearch