AIMC Topic: Rare Diseases
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Fine-tuning large language models for rare disease concept normalization.
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).
MOSAIC: An Artificial Intelligence-Based Framework for Multimodal Analysis, Classification, and Personalized Prognostic Assessment in Rare Cancers.
JCO clinical cancer informatics
Jun 1, 2024
PURPOSE: Rare cancers constitute over 20% of human neoplasms, often affecting patients with unmet medical needs. The development of effective classification and prognostication systems is crucial to improve the decision-making process and drive innov...
Self-Supervised Learning for Improved Optical Coherence Tomography Detection of Macular Telangiectasia Type 2.
JAMA ophthalmology
Mar 1, 2024
IMPORTANCE: Deep learning image analysis often depends on large, labeled datasets, which are difficult to obtain for rare diseases.
Automatically pre-screening patients for the rare disease aromatic l-amino acid decarboxylase deficiency using knowledge engineering, natural language processing, and machine learning on a large EHR population.
Journal of the American Medical Informatics Association : JAMIA
Feb 16, 2024
OBJECTIVES: Electronic health record (EHR) data may facilitate the identification of rare diseases in patients, such as aromatic l-amino acid decarboxylase deficiency (AADCd), an autosomal recessive disease caused by pathogenic variants in the dopa d...
[Rare disease in the age of artificial intelligence.].
Recenti progressi in medicina
Feb 1, 2024
INTRODUCTION: The text examines the impact of artificial intelligence (AI) in the context of rare diseases, exploring how patients turn to AI resources for health information, especially in situations where doctor-patient communication is limited. Th...
The Human Phenotype Ontology in 2024: phenotypes around the world.
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...
The DO-KB Knowledgebase: a 20-year journey developing the disease open science ecosystem.
Nucleic acids research
Jan 5, 2024
In 2003, the Human Disease Ontology (DO, https://disease-ontology.org/) was established at Northwestern University. In the intervening 20 years, the DO has expanded to become a highly-utilized disease knowledge resource. Serving as the nomenclature a...
RDguru: An Intelligent Agent for Rare Diseases.
AMIA ... Annual Symposium proceedings. AMIA Symposium
Jan 1, 2024
Large language models (LLMs) have shown great promise in clinical medicine, but their adoption in real-world settings has been limited by their tendency to generate incorrect and sometimes even toxic statements. This study presents a reliable rare di...
Development and clinical validation of real-time artificial intelligence diagnostic companion for fetal ultrasound examination.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Sep 1, 2023
OBJECTIVE: Prenatal diagnosis of a rare disease on ultrasound relies on a physician's ability to remember an intractable amount of knowledge. We developed a real-time decision support system (DSS) that suggests, at each step of the examination, the n...
Phen2Disease: a phenotype-driven model for disease and gene prioritization by bidirectional maximum matching semantic similarities.
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. ...
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