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

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.

The Sickle Cell Disease Ontology: recent development and expansion of the universal sickle cell knowledge representation

“…For example, the ontology core content was built and consolidated through different workshops, engaging with different communities, including experts and researchers from different continents ( 1 , 3 ), and most importantly, with SCD patient groups from Cape Town (South Africa), Dar-es-Salaam (Tanzania), Kumasi (Ghana) and Abuja (Nigeria). In the third workshop in 2018 ( 1 ), the structure of the ontology was refined to support basic and translational research and the derived SCDO scheme was used to design another disease-specific ontology, the Hearing Impairment Ontology ( 24 ). The most recent workshop was held in December 2019, just before the Coronavirus disease (COVID-19) pandemic outbreak, and aimed at harnessing the SCDO to harmonize data elements from retrospective multi-site studies, contributing to the SickleInAfrica cohort collaborative research.…”

gEAR: gene Expression Analysis Resource portal for community-driven, multi-omic data exploration

“…Additionally, the gEAR has already been used for data dissemination 5,[23][24][25][26][27][28][29][30][31][32][33][34][35] , hypothesis generation [36][37][38][39][40][41][42][43][44] and validation of gene expression 29,30,[45][46][47][48][49][50][51][52][53][54][55][56][57] by numerous publications in the ear field. It has also been referenced by numerous groups as a useful tool [58][59][60][61][62][63][64] . Our team screens the literature on a regular basis, uploads and curates new datasets relevant to the hearing research community, and has thereby transformed the gEAR from a simple tool to a high value resource.…”

Developing Cardiac Electrophysiology Ontology: Moving Towards Data Harmonization and Integration

“…In this study, cardiac EP ontology can provide a semantic layer and conceptual interface for solving the data heterogeneity problems. Hotchkiss et al described the Hearing Impairment Ontology (HIO) which would allow standardized HIrelated knowledge in a single location and promote HI data integration, interoperability, and sharing [38].…”