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🦜 Disease Ontology

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Disease Ontology: Latest results from PubMed

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Posts: 10

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Agentic Authoring of OMOP Concept Sets from Natural Language

Published: June 12, 2026 10:00

Authoring OMOP concept sets from free-text descriptions remains a major bottleneck in scalable computable phenotyping for observational research. Existing tools support parts of this workflow but are designed primarily for interactive expert use rather…

Exploratory transcriptomic and network-based analysis of methylmercury exposure in human neuronal developmental models using GEO datasets and toxicogenomic resources

Published: June 9, 2026 10:00

CONCLUSION: This integrative transcriptomic and network-based analysis provides an exploratory framework to prioritize candidate genes and biological processes associated with methylmercury exposure across human neuronal developmental models. The results…

IID-KG: An ontology-aligned literature-derived knowledge graph for infectious and immune-mediated diseases

Published: June 5, 2026 10:00

Infectious and immune-mediated diseases (IIDs) represent a broad and rapidly expanding biomedical literature domain in which scalable evidence extraction, disease ontology refinement, and interpretable knowledge integration are essential for biomedical…

Identification of senescence-related biomarker for aortic dissection based on bioinformatics and machine learning algorithms

Published: May 30, 2026 10:00

Aortic dissection (AD) is a vascular surgical disease that seriously threatens human health. Due to a high misdiagnosis rate and unclear pathogenesis, it brings greater challenges to AD patients and vascular surgeons. This study aimed to explore sensitive…

Expanding African contributions to ClinVar through genetic counselor-led variant curation

Published: May 27, 2026 10:00

Global variant databases such as ClinVar are vital in linking genetic variation to clinical significance and enabling shared interpretation across laboratories. However, African genetic variants remain underrepresented, comprising under 2% of global…

Utilizing Routine Care Data of Rare Diseases: Challenges, Chances and Call for Collaboration

Published: May 23, 2026 10:00

Approximately 300 million people are living with a rare disease (RD) worldwide. Despite this significant health burden, the prevalence of many RDs is underestimated due to the limited specificity of standard coding systems such as the International…

Updates to gene-disease classifications and inheritance patterns for porphyrias

Published: May 10, 2026 10:00

The heme synthesis pathway consists of eight enzyme-catalyzed steps, and pathogenic variants in the genes encoding these enzymes cause porphyrias. Diagnosis of certain porphyrias is often significantly delayed, due to their episodic and nonspecific…

Multi-Omics and Machine Learning Analyses Reveal PIK3CG, PRKCD, and TRIM22 as Potential Markers of Poor Prognosis and Immune Activation in Glioblastoma

Published: April 28, 2026 10:00

CONCLUSION: This study identifies PIK3CG, PRKCD, and TRIM22 as potential biomarkers and therapeutic targets in IDH-wildtype GBM. Their paradoxical association with poor survival and immune activation may inform personalized treatment strategies that…

Core microRNAs bridging peripheral transcriptomic alterations, brain functional abnormalities, and clinical symptomatology in schizophrenia

Published: April 25, 2026 10:00

This study adopted a comprehensive multi-omics approach integrating blood microRNA (miRNA) transcriptomic profiles, resting-state functional magnetic resonance imaging (rs-fMRI) neuroimaging data, and clinical symptomatology to elucidate the molecular and…