BACKGROUND: For clinical care and research, knowledge graphs with patient data can be enriched by extracting parameters from a knowledge graph and then using them as inputs to compute new patient features with pure functions. Systematic and transpare...
In the healthcare industry, the Semantic Web offers to manage a huge amount of medical data which is machine-readable and machine-understandable as well. This domain incorporates ontologies, linked data, and semantic web technologies to promote healt...
BACKGROUND: Infectious diseases remain a critical global health challenge, and the integration of standardized ontologies plays a vital role in managing related data. The Infectious Disease Ontology (IDO) and its extensions, such as the Coronavirus I...
Accurate mapping of complex health data to the OMOP CDM while preserving clinical nuance remains a challenge. We introduce Jackalope Plus, a novel tool leveraging SNOMED CT post-coordination and a GPT-4o mini LLM, to significantly enhance the precisi...
OBJECTIVE: Ontologies are essential for representing the knowledge of a domain. To make ontologies useful, they must encompass a comprehensive domain view. To achieve ontology enrichment, there is a need to discover new concepts to be added, either b...
BACKGROUND: Identifying Human Phenotype Ontology (HPO) terms is crucial for diagnosing and managing rare diseases. However, clinicians, especially junior physicians, often face challenges due to the complexity of describing patient phenotypes accurat...
The international journal of behavioral nutrition and physical activity
May 5, 2025
BACKGROUND: Personalised recommendations for action and coping plans for physical activity (PA) may reduce user burden and increase plan quality. Ontologies are a promising alternative to existing black-box approaches for creating such personalised r...
International journal of medical informatics
Apr 21, 2025
OBJECTIVE: Dravet Syndrome (DS) is a developmental and epileptic encephalopathy that is characterized by severe, prolonged motor seizures and high resistance to multiple antiseizure medications (ASMs) with multiple comorbidities. Evaluating the effic...
OBJECTIVES: We aim to identify, select, and summarize the best papers published in 2023 for the Knowledge Representation and Management (KRM) section of the International Medical Informatics Association (IMIA) Yearbook.
American journal of medical genetics. Part A
Apr 3, 2025
Arthrogryposis multiplex congenita (AMC) represents a large, rare group of congenital conditions. This study addressed major challenges in AMC research posed by the lack of systematic frameworks for data collection and the use of inconsistent termino...
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