TY - JOUR
T1 - The hearing impairment ontology
T2 - A tool for unifying hearing impairment knowledge to enhance collaborative research
AU - Hotchkiss, Jade
AU - Manyisa, Noluthando
AU - Adadey, Samuel Mawuli
AU - Oluwole, Oluwafemi Gabriel
AU - Wonkam, Edmond
AU - Mnika, Khuthala
AU - Yalcouye, Abdoulaye
AU - Nembaware, Victoria
AU - Haendel, Melissa
AU - Vasilevsky, Nicole
AU - Mulder, Nicola J.
AU - Jupp, Simon
AU - Wonkam, Ambroise
AU - Mazandu, Gaston K.
N1 - Funding Information:
The development and implementation of the HIO is funded by the National Institutes of Health (NIH) Common Fund grants U01‐HG‐009716 and 1U01HG007459‐01 to AW and the African Academy of Science/Wellcome Trust Ref H3A/18/001 and 1U54HG009790‐01 to AW. Some developers and ontologists are supported by the National Heart, Lung, and Blood Institute of the National Institutes of Health under Award Number U24HL135600 to AW. The content is solely the responsibility of the authors and does not necessarily represent the official views of the funders.
Publisher Copyright:
© 2019 by the authors. Licensee MDPI, Basel, Switzerland.
PY - 2019/12
Y1 - 2019/12
N2 - 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 ʹHearing Impairmentʹ 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.
AB - 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 ʹHearing Impairmentʹ 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.
KW - Data harmonization
KW - Hearing impairment
KW - Hearing loss
KW - Meta-analysis
KW - Ontology
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U2 - 10.3390/genes10120960
DO - 10.3390/genes10120960
M3 - Article
C2 - 31766582
AN - SCOPUS:85075375270
SN - 2073-4425
VL - 10
JO - Genes
JF - Genes
IS - 12
M1 - 960
ER -