Nucleic acids research
Jan 5, 2024
The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similar...
AMIA ... Annual Symposium proceedings. AMIA Symposium
Jan 1, 2024
Many data resources generate, process, store, or provide kidney related molecular, pathological, and clinical data. Reference ontologies offer an opportunity to support knowledge and data integration. The Kidney Precision Medicine Project (KPMP) team...
AMIA ... Annual Symposium proceedings. AMIA Symposium
Jan 1, 2024
Efficient querying for medication information in Electronic Health Record (EHR) datasets is crucial for effective patient care and clinical research. To address the complexity and data volume challenges involved in efficient medication information re...
Database : the journal of biological databases and curation
Dec 2, 2023
As one of the leading causes for dementia in the population, it is imperative that we discern exactly why Alzheimer's disease (AD) has a strong molecular association with beta-amyloid and tau. Although a clear understanding about etiology and pathoge...
Briefings in bioinformatics
Jul 20, 2023
Human Phenotype Ontology (HPO)-based approaches have gained popularity in recent times as a tool for genomic diagnostics of rare diseases. However, these approaches do not make full use of the available information on disease and patient phenotypes. ...
Bioinformatics (Oxford, England)
Jul 1, 2023
MOTIVATION: The number and size of computational models in biology have drastically increased over the past years and continue to grow. Modeled networks are becoming more complex, and reconstructing them from the beginning in an exchangeable and repr...
Bioinformatics (Oxford, England)
Jul 1, 2023
MOTIVATION: Knowledge graphs (KGs) are a powerful approach for integrating heterogeneous data and making inferences in biology and many other domains, but a coherent solution for constructing, exchanging, and facilitating the downstream use of KGs is...
Bioinformatics (Oxford, England)
Apr 3, 2023
MOTIVATION: Relation extraction (RE) is a crucial process to deal with the amount of text published daily, e.g. to find missing associations in a database. RE is a text mining task for which the state-of-the-art approaches use bidirectional encoders,...
Bioinformatics (Oxford, England)
Apr 3, 2023
MOTIVATION: Human traits are typically represented in both the biomedical literature and large population studies as descriptive text strings. Whilst a number of ontologies exist, none of these perfectly represent the entire human phenome and exposom...
Radiographics : a review publication of the Radiological Society of North America, Inc
Mar 1, 2023
From basic research to the bedside, precise terminology is key to advancing medicine and ensuring optimal and appropriate patient care. However, the wide spectrum of diseases and their manifestations superimposed on medical team-specific and discipli...