Background: Biomedical ontologies pose several challenges to ontology matching due both to the complexity of the biomedical domain and to the characteristics of the ontologies themselves. The biomedical tracks in the Ontology Matching Evaluation Initiative (OAEI) have spurred the development of matching systems able to tackle these challenges, and benchmarked their general performance. In this study, we dissect the strategies employed by matching systems to tackle the challenges of matching biomedical ontologies and gauge the impact of the challenges themselves on matching performance, using the AgreementMakerLight (AML) system as the platform for this study.
Results: We demonstrate that the linear complexity of the hash-based searching strategy implemented by most state-of-the-art ontology matching systems is essential for matching large biomedical ontologies efficiently. We show that accounting for all lexical annotations (e.g., labels and synonyms) in biomedical ontologies leads to a substantial improvement in F-measure over using only the primary name, and that accounting for the reliability of different types of annotations generally also leads to a marked improvement. Finally, we show that cross-references are a reliable source of information and that, when using biomedical ontologies as background knowledge, it is generally more reliable to use them as mediators than to perform lexical expansion.
Conclusions: We anticipate that translating traditional matching algorithms to the hash-based searching paradigm will be a critical direction for the future development of the field. Improving the evaluation carried out in the biomedical tracks of the OAEI will also be important, as without proper reference alignments there is only so much that can be ascertained about matching systems or strategies. Nevertheless, it is clear that, to tackle the various challenges posed by biomedical ontologies, ontology matching systems must be able to efficiently combine multiple strategies into a mature matching approach.
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http://dx.doi.org/10.1186/s13326-017-0170-9 | DOI Listing |
Healthcare (Basel)
December 2024
Centre for Digital Transformation, School of Computing and Information Technology, University of Wollongong, Wollongong, NSW 2522, Australia.
Background: Traditional methods for analysing surgical processes often fall short in capturing the intricate interconnectedness between clinical procedures, their execution sequences, and associated resources such as hospital infrastructure, staff, and protocols.
Aim: This study addresses this gap by developing an ontology for appendicectomy, a computational model that comprehensively represents appendicectomy processes and their resource dependencies to support informed decision making and optimise appendicectomy healthcare delivery.
Methods: The ontology was developed using the NeON methodology, drawing knowledge from existing ontologies, scholarly literature, and de-identified patient data from local hospitals.
Objectives: To identify cuproptosis- and ferroptosis-related genes involved in nonalcoholic fatty liver disease and to determine the diagnostic value of hub genes.
Methods: The gene expression dataset GSE89632 was retrieved from the Gene Expression Omnibus database to identify differentially expressed genes (DEGs) between the non-alcoholic steatohepatitis (NASH) group and the healthy group using the 'limma' package in R software and weighted gene co-expression network analysis. Gene ontology, kyoto encyclopedia of genes and genomes pathway, and single-sample gene set enrichment analyses were performed to identify functional enrichment of DEGs.
BMC Genomics
January 2025
College of Software, Nankai University, TianJin, China.
Background: Mining functional gene modules from genomic data is an important step to detect gene members of pathways or other relations such as protein-protein interactions. This work explores the plausibility of detecting functional gene modules by factorizing gene-phenotype association matrix from the phenotype ontology data rather than the conventionally used gene expression data. Recently, the hierarchical structure of phenotype ontologies has not been sufficiently utilized in gene clustering while functionally related genes are consistently associated with phenotypes on the same path in phenotype ontologies.
View Article and Find Full Text PDFSci Rep
January 2025
Department of TCM, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, 100026, China.
Recurrent miscarriage (RM) is a reproductive disorder affecting couples worldwide. The underlying molecular mechanisms remain elusive, even though emerging evidence has implicated endoplasmic reticulum stress (ERS). We investigated RM- and ERS-related genes to develop a diagnostic model that can enhance predictive ability.
View Article and Find Full Text PDFZhong Nan Da Xue Xue Bao Yi Xue Ban
July 2024
Department of Laboratory Medicine, Second Xiangya Hospital, Central South University, Changsha 410011.
Objectives: Long non-coding RNAs (lncRNAs) play an essential role in cancer biology. Cervical intraepithelial neoplasia grade 3 (CIN3) is the most severe precancerous lesion of cervical cancer. However, the mechanism of multiple lncRNAs in CIN3 has not been studied in-depth and is worth exploring.
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