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...
Autores principales: | , , , , , , , , , , , , , |
---|---|
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 |