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 Ontologies


Ontology-based Semantic Similarity Measures for Clustering Medical Concepts in Drug Safety

arXiv.org Artificial Intelligence

Semantic similarity measures (SSMs) are widely used in biomedical research but remain underutilized in pharmacovigilance. This study evaluates six ontology-based SSMs for clustering MedDRA Preferred Terms (PTs) in drug safety data. Using the Unified Medical Language System (UMLS), we assess each method's ability to group PTs around medically meaningful centroids. A high-throughput framework was developed with a Java API and Python and R interfaces support large-scale similarity computations. Results show that while path-based methods perform moderately with F1 scores of 0.36 for WUPALMER and 0.28 for LCH, intrinsic information content (IC)-based measures, especially INTRINSIC-LIN and SOKAL, consistently yield better clustering accuracy (F1 score of 0.403). Validated against expert review and standard MedDRA queries (SMQs), our findings highlight the promise of IC-based SSMs in enhancing pharmacovigilance workflows by improving early signal detection and reducing manual review.


A Systematic Evaluation of Knowledge Graph Embeddings for Gene-Disease Association Prediction

arXiv.org Artificial Intelligence

Discovery gene-disease links is important in biology and medicine areas, enabling disease identification and drug repurposing. Machine learning approaches accelerate this process by leveraging biological knowledge represented in ontologies and the structure of knowledge graphs. Still, many existing works overlook ontologies explicitly representing diseases, missing causal and semantic relationships between them. The gene-disease association problem naturally frames itself as a link prediction task, where embedding algorithms directly predict associations by exploring the structure and properties of the knowledge graph. Some works frame it as a node-pair classification task, combining embedding algorithms with traditional machine learning algorithms. This strategy aligns with the logic of a machine learning pipeline. However, the use of negative examples and the lack of validated gene-disease associations to train embedding models may constrain its effectiveness. This work introduces a novel framework for comparing the performance of link prediction versus node-pair classification tasks, analyses the performance of state of the art gene-disease association approaches, and compares the different order-based formalizations of gene-disease association prediction. It also evaluates the impact of the semantic richness through a disease-specific ontology and additional links between ontologies. The framework involves five steps: data splitting, knowledge graph integration, embedding, modeling and prediction, and method evaluation. Results show that enriching the semantic representation of diseases slightly improves performance, while additional links generate a greater impact. Link prediction methods better explore the semantic richness encoded in knowledge graphs. Although node-pair classification methods identify all true positives, link prediction methods outperform overall.


A Python toolkit for dealing with Petri nets over ontological graphs

arXiv.org Artificial Intelligence

We present theoretical rudiments of Petri nets over ontological graphs as well as the designed and implemented Python toolkit for dealing with such nets. In Petri nets over ontological graphs, the domain knowledge is enclosed in a form of ontologies. In this way, some valuable knowledge (especially in terms of semantic relations) can be added to model reasoning and control processes by means of Petri nets. In the implemented approach, ontological graphs are obtained from ontologies built in accordance with the OWL 2 Web Ontology Language. The implemented tool enables the users to define the structure and dynamics of Petri nets over ontological graphs.


Reducing Formal Context Extraction: A Newly Proposed Framework from Big Corpora

arXiv.org Artificial Intelligence

Automating the extraction of concept hierarchies from free text is advantageous because manual generation is frequently labor- and resource-intensive. Free result, the whole procedure for concept hierarchy learning from free text entails several phases, including sentence-level text processing, sentence splitting, and tokenization. Lemmatization is after formal context analysis (FCA) to derive the pairings. Nevertheless, there could be a few uninteresting and incorrect pairings in the formal context. It may take a while to generate formal context; thus, size reduction formal context is necessary to weed out irrelevant and incorrect pairings to extract the concept lattice and hierarchies more quickly. This study aims to propose a framework for reducing formal context in extracting concept hierarchies from free text to reduce the ambiguity of the formal context. We achieve this by reducing the size of the formal context using a hybrid of a WordNet-based method and a frequency-based technique. Using 385 samples from the Wikipedia corpus and the suggested framework, tests are carried out to examine the reduced size of formal context, leading to concept lattice and concept hierarchy. With the help of concept lattice-invariants, the generated formal context lattice is compared to the normal one. In contrast to basic ones, the homomorphic between the resultant lattices retains up to 98% of the quality of the generating concept hierarchies, and the reduced concept lattice receives the structural connection of the standard one. Additionally, the new framework is compared to five baseline techniques to calculate the running time on random datasets with various densities. The findings demonstrate that, in various fill ratios, hybrid approaches of the proposed method outperform other indicated competing strategies in concept lattice performance.


Representing Normative Regulations in OWL DL for Automated Compliance Checking Supported by Text Annotation

arXiv.org Artificial Intelligence

Compliance checking is the process of determining whether a regulated entity adheres to these regulations. Currently, compliance checking is predominantly manual, requiring significant time and highly skilled experts, while still being prone to errors caused by the human factor. Various approaches have been explored to automate compliance checking, however, representing regulations in OWL DL language which enables compliance checking through OWL reasoning has not been adopted. In this work, we propose an annotation schema and an algorithm that transforms text annotations into machine-interpretable OWL DL code. The proposed approach is validated through a proof-of-concept implementation applied to examples from the building construction domain.


LLMs4SchemaDiscovery: A Human-in-the-Loop Workflow for Scientific Schema Mining with Large Language Models

arXiv.org Artificial Intelligence

Extracting structured information from unstructured text is crucial for modeling real-world processes, but traditional schema mining relies on semi-structured data, limiting scalability. This paper introduces schema-miner, a novel tool that combines large language models with human feedback to automate and refine schema extraction. Through an iterative workflow, it organizes properties from text, incorporates expert input, and integrates domain-specific ontologies for semantic depth. Applied to materials science--specifically atomic layer deposition-- schema-miner demonstrates that expert-guided LLMs generate semantically rich schemas suitable for diverse real-world applications.


Comparison of Metadata Representation Models for Knowledge Graph Embeddings

arXiv.org Artificial Intelligence

Hyper-relational Knowledge Graphs (HRKGs) extend traditional KGs beyond binary relations, enabling the representation of contextual, provenance, and temporal information in domains, such as historical events, sensor data, video content, and narratives. HRKGs can be structured using several Metadata Representation Models (MRMs), including Reification (REF), Singleton Property (SGP), and RDF-star (RDR). However, the effects of different MRMs on KG Embedding (KGE) and Link Prediction (LP) models remain unclear. This study evaluates MRMs in the context of LP tasks, identifies the limitations of existing evaluation frameworks, and introduces a new task that ensures fair comparisons across MRMs. Furthermore, we propose a framework that effectively reflects the knowledge representations of the three MRMs in latent space. Experiments on two types of datasets reveal that REF performs well in simple HRKGs, whereas SGP is less effective. However, in complex HRKGs, the differences among MRMs in the LP tasks are minimal. Our findings contribute to an optimal knowledge representation strategy for HRKGs in LP tasks.


PVLens: Enhancing Pharmacovigilance Through Automated Label Extraction

arXiv.org Artificial Intelligence

Reliable drug safety reference databases are essential for pharmacovigilance, yet existing resources like SIDER are outdated and static. We introduce PVLens, an automated system that extracts labeled safety information from FDA Structured Product Labels (SPLs) and maps terms to MedDRA. In validation against 97 drug labels, PVLens achieved an F1 score of 0.882, with high recall (0.983) and moderate precision (0.799). By offering a scalable, more accurate and continuously updated alternative to SIDER, PVLens enhances real-time pharamcovigilance with improved accuracy and contemporaneous insights. Keywords: Pharmacovigilance, Natural Language Processing (NLP), Drug Safety, ADR 1 Introduction A clear understanding of known adverse effects, along with continuous surveillance for emerging safety concerns, is essential for patients, healthcare professionals, and pharmacovigilance (PV) scientists.


OntoAligner: A Comprehensive Modular and Robust Python Toolkit for Ontology Alignment

arXiv.org Artificial Intelligence

Ontology Alignment (OA) is fundamental for achieving semantic interoperability across diverse knowledge systems. We present OntoAligner, a comprehensive, modular, and robust Python toolkit for ontology alignment, designed to address current limitations with existing tools faced by practitioners. Existing tools are limited in scalability, modularity, and ease of integration with recent AI advances. OntoAligner provides a flexible architecture integrating existing lightweight OA techniques such as fuzzy matching but goes beyond by supporting contemporary methods with retrieval-augmented generation and large language models for OA. The framework prioritizes extensibility, enabling researchers to integrate custom alignment algorithms and datasets. This paper details the design principles, architecture, and implementation of the OntoAligner, demonstrating its utility through benchmarks on standard OA tasks. Our evaluation highlights OntoAligner's ability to handle large-scale ontologies efficiently with few lines of code while delivering high alignment quality. By making OntoAligner open-source, we aim to provide a resource that fosters innovation and collaboration within the OA community, empowering researchers and practitioners with a toolkit for reproducible OA research and real-world applications.


Enhancing Domain-Specific Encoder Models with LLM-Generated Data: How to Leverage Ontologies, and How to Do Without Them

arXiv.org Artificial Intelligence

We investigate the use of LLM-generated data for continual pretraining of encoder models in specialized domains with limited training data, using the scientific domain of invasion biology as a case study. To this end, we leverage domain-specific ontologies by enriching them with LLM-generated data and pretraining the encoder model as an ontology-informed embedding model for concept definitions. To evaluate the effectiveness of this method, we compile a benchmark specifically designed for assessing model performance in invasion biology. After demonstrating substantial improvements over standard LLM pretraining, we investigate the feasibility of applying the proposed approach to domains without comprehensive ontologies by substituting ontological concepts with concepts automatically extracted from a small corpus of scientific abstracts and establishing relationships between concepts through distributional statistics. Our results demonstrate that this automated approach achieves comparable performance using only a small set of scientific abstracts, resulting in a fully automated pipeline for enhancing domain-specific understanding of small encoder models that is especially suited for application in low-resource settings and achieves performance comparable to masked language modeling pretraining on much larger datasets.