Last Updated: 09/26/2026
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Found 61 publications
Extraction of Human Phenotype Ontology (HPO) Concepts from Clinical Notes Utilizing Large Language Models (LLM) with Model Context Protocol (MCP).
Journal: medRxiv : the preprint server for health sciences
Published: June 05, 2026
Interpretable Fine-tuned Large Language Models Facilitate Making Genetic Test Decisions for Rare Diseases.
Journal: medRxiv : the preprint server for health sciences
Published: March 23, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
Interpretable fine-tuned large language models facilitate making genetic test decisions for rare diseases.
Journal: NPJ digital medicine
Published: October 02, 2025
RankVar: machine learning-based variant ranking and reinterpretation for rare genetic diseases.
Journal: Genome medicine
Published: April 09, 2025
Florigen and antiflorigen gene expression correlates with reproductive state in a marine angiosperm, Zostera marina.
Journal: bioRxiv : the preprint server for biology
Published: November 28, 2024
Automatic genetic phenotype normalization from dysmorphology physical examinations: an overview of the BioCreative VIII-Task 3 competition.
Journal: Database : the journal of biological databases and curation
Published: October 17, 2024
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
Journal: NPJ genomic medicine
Published: December 01, 2023
Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.
Journal: NPJ digital medicine
Published: November 10, 2023
Last Updated: 09/26/2026