Genetics
Mar 17, 2025
Phenotypic data are critical for understanding biological mechanisms and consequences of genomic variation, and are pivotal for clinical use cases such as disease diagnostics and treatment development. For over a century, vast quantities of phenotype...
Database : the journal of biological databases and curation
Jan 22, 2025
Ontologies and knowledge graphs (KGs) are general-purpose computable representations of some domain, such as human anatomy, and are frequently a crucial part of modern information systems. Most of these structures change over time, incorporating new ...
Journal of veterinary internal medicine
Jan 1, 2025
BACKGROUND: Limited universally-adopted data standards in veterinary medicine hinder data interoperability and therefore integration and comparison; this ultimately impedes the application of existing information-based tools to support advancement in...
PloS one
Jan 1, 2025
The emergence of the SARS-CoV-2 virus and the resulting COVID-19 pandemic brought forth an urgent need for an in-depth molecular understanding, organization, and data integration to expedite therapeutic and preventive strategies. An essential approac...
Database : the journal of biological databases and curation
Dec 5, 2024
Atherosclerotic cerebrovascular disease could result in a great number of deaths and disabilities. However, it did not acquire enough attention. Less information, statistics, or data on the disease has been revealed. Thus, no systematic concept datas...
Database : the journal of biological databases and curation
Nov 28, 2024
There is an ongoing need for scalable tools to aid researchers in both retrospective and prospective standardization of discrete entity types-such as disease names, cell types, or chemicals-that are used in metadata associated with biomedical data. W...
Studies in health technology and informatics
Nov 22, 2024
We present a new methodological approach based on integrating Arden-Syntax-based clinical decision support (CDS) with an upstream ontology service. Incoming linguistic patient data, such as single reports about detected germs or viruses, shall be ide...
Journal of the American Medical Informatics Association : JAMIA
Sep 1, 2024
OBJECTIVE: We aim to develop a novel method for rare disease concept normalization by fine-tuning Llama 2, an open-source large language model (LLM), using a domain-specific corpus sourced from the Human Phenotype Ontology (HPO).
Journal of the American Medical Informatics Association : JAMIA
Sep 1, 2024
OBJECTIVES: Biomedical Knowledge Graphs play a pivotal role in various biomedical research domains. Concurrently, term clustering emerges as a crucial step in constructing these knowledge graphs, aiming to identify synonymous terms. Due to a lack of ...
Studies in health technology and informatics
Aug 22, 2024
Ontologies play a key role in representing and structuring domain knowledge. In the biomedical domain, the need for this type of representation is crucial for structuring, coding, and retrieving data. However, available ontologies do not encompass al...