A deep learning approach to identify missing is-a relations in SNOMED CT

R Abeysinghe, F Zheng, EV Bernstam… - Journal of the …, 2023 - academic.oup.com
Objective SNOMED CT is the largest clinical terminology worldwide. Quality assurance of
SNOMED CT is of utmost importance to ensure that it provides accurate domain knowledge …

Identifying missing IS-A relations in orphanet rare disease ontology

M Mohtashamian, R Abeysinghe… - … on Bioinformatics and …, 2022 - ieeexplore.ieee.org
The Orphanet Rare Disease Ontology (ORDO) provides a structured vocabulary
encapsulating rare diseases. Downstream applications of ORDO depend on its accuracy to …

A lexical-based approach for exhaustive detection of missing hierarchical IS-A relations in SNOMED CT

F Zheng, J Shi, L Cui - AMIA Annual Symposium Proceedings, 2021 - pmc.ncbi.nlm.nih.gov
Incompleteness of ontologies affects the quality of downstream ontology-based applications.
In this paper, we introduce a novel lexical-based approach to automatically detect potentially …

An evidence-based lexical pattern approach for quality assurance of Gene Ontology relations

R Abeysinghe, Y Yang, M Bartels… - Briefings in …, 2022 - academic.oup.com
Gene Ontology (GO) is widely used in the biological domain. It is the most comprehensive
ontology providing formal representation of gene functions (GO concepts) and relations …

A transformation-based method for auditing the IS-A hierarchy of biomedical terminologies in the Unified Medical Language System

F Zheng, J Shi, Y Yang, WJ Zheng… - Journal of the American …, 2020 - academic.oup.com
Abstract Objective The Unified Medical Language System (UMLS) integrates various source
terminologies to support interoperability between biomedical information systems. In this …

Leveraging logical definitions and lexical features to detect missing IS-A relations in biomedical terminologies

R Abeysinghe, F Zheng, J Shi, SD Lhatoo… - Journal of Biomedical …, 2024 - Springer
Biomedical terminologies play a vital role in managing biomedical data. Missing IS-A
relations in a biomedical terminology could be detrimental to its downstream usages. In this …

A hybrid method to detect missing hierarchical relations in NCI Thesaurus

F Zheng, R Abeysinghe, L Cui - 2019 IEEE International …, 2019 - ieeexplore.ieee.org
Biomedical terminologies such as National Cancer Institute thesaurus (NCIt) have been
widely used in supporting various biomedical research and applications. Therefore, the …

Automated Identification of Missing IS-A Relations in the Human Phenotype Ontology

M Mohtashamian, R Hu, R Abeysinghe… - AMIA Annual …, 2023 - pmc.ncbi.nlm.nih.gov
Auditing the Human Phenotype Ontology (HPO) is necessary to provide accurate
terminology for its use in clinical research. We investigate an approach leveraging the …

Detecting missing IS-A relations in the NCI Thesaurus using an enhanced hybrid approach

F Zheng, R Abeysinghe, N Sioutos, L Whiteman… - BMC Medical Informatics …, 2020 - Springer
Abstract Background The National Cancer Institute (NCI) Thesaurus provides reference
terminology for NCI and other systems. Previously, we proposed a hybrid prototype utilizing …

A Comparison of Exhaustive and Non-lattice-based Methods for Auditing Hierarchical Relations in Gene Ontology

R Abeysinghe, F Zheng, L Cui - AMIA Annual Symposium …, 2022 - pmc.ncbi.nlm.nih.gov
Uncovering and fixing errors in biomedical terminologies is essential so that they provide
accurate knowledge to downstream applications that rely on them. Non-lattice-based …