Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

15.8K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
15.8K
Pedigree Analysis01:35

Pedigree Analysis

89.9K
Overview
89.9K
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

25
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
25
Classification of Illness01:17

Classification of Illness

8.9K
The meaning of illness is individualized to each person who experiences an alteration in health. In contrast, disease is a medical term indicating a pathological change in the structure and function of the body or mind. It is a condition that has specific symptoms and boundaries.
An illness is a response to a disease in which the person's level of functioning is changed compared with a previous level. The general classification of illness includes acute and chronic.
Acute illness is severe...
8.9K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Individualized temporal interference stimulation with theta-burst patterning targeting the BNST in obsessive-compulsive disorder: Two cases.

Asian journal of psychiatry·2026
Same author

Advancing radiology foundation models with reasoning through step-by-step verification from daily reports.

Communications medicine·2026
Same author

Less pain, faster recovery: evaluating 8Fr vs. 22Fr chest tubes in thoracoscopic lung cancer resection.

Journal of cardiothoracic surgery·2026
Same author

Boosting pathology foundation models via few-shot prompt-tuning for rare cancer subtyping.

Nature communications·2026
Same author

Decoding the anti-glioma potential of saponins: structure-activity relationships, mechanism and development strategy.

European journal of medicinal chemistry·2026
Same author

ELABELA Targets Mitochondria to Modulate Heart Development.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)·2026

Related Experiment Video

Updated: Feb 20, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.4K

An agentic system for rare disease diagnosis with traceable reasoning.

Weike Zhao1,2,3, Chaoyi Wu1, Yanjie Fan4,5

  • 1School of Artificial Intelligence, Shanghai Jiao Tong University, Shanghai, China.

Nature
|February 18, 2026
PubMed
Summary

DeepRare, a novel multi-agent system, significantly improves rare disease diagnosis by integrating large language models and specialized tools. It aims to shorten the diagnostic odyssey for millions affected by rare conditions.

More Related Videos

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.4K
Evidence-based Knowledge Synthesis and Hypothesis Validation: Navigating Biomedical Knowledge Bases via Explainable AI and Agentic Systems
05:47

Evidence-based Knowledge Synthesis and Hypothesis Validation: Navigating Biomedical Knowledge Bases via Explainable AI and Agentic Systems

Published on: June 13, 2025

1.6K

Related Experiment Videos

Last Updated: Feb 20, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.4K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.4K
Evidence-based Knowledge Synthesis and Hypothesis Validation: Navigating Biomedical Knowledge Bases via Explainable AI and Agentic Systems
05:47

Evidence-based Knowledge Synthesis and Hypothesis Validation: Navigating Biomedical Knowledge Bases via Explainable AI and Agentic Systems

Published on: June 13, 2025

1.6K

Area of Science:

  • Medical Informatics
  • Artificial Intelligence in Medicine
  • Genomics

Background:

  • Rare diseases impact over 300 million globally, presenting significant diagnostic challenges.
  • Patients face a lengthy 'diagnostic odyssey' with delays, misdiagnoses, and increased burdens.

Purpose of the Study:

  • To introduce DeepRare, a multi-agent system for rare disease differential diagnosis decision support.
  • To leverage large language models and specialized tools for enhanced diagnostic accuracy.

Main Methods:

  • DeepRare integrates over 40 specialized tools and knowledge sources.
  • It processes heterogeneous clinical data including free text, Human Phenotype Ontology (HPO) terms, and genetic results.
  • A multi-agent system powered by large language models generates ranked diagnostic hypotheses with transparent reasoning.

Main Results:

  • DeepRare demonstrated exceptional performance across 2,919 diseases in 14 medical specialties.
  • Achieved an average Recall@1 of 57.18% in HPO-based tasks, outperforming other methods by 23.79%.
  • In multi-modal tests, DeepRare reached 69.1% accuracy, surpassing Exomiser (55.9%). Expert review confirmed 95.4% agreement on reasoning validity.

Conclusions:

  • DeepRare significantly advances rare disease diagnosis by providing accurate, evidence-based diagnostic hypotheses.
  • The system demonstrates the potential of large-language-model-driven agentic systems to transform clinical workflows.
  • This approach promises to reduce the diagnostic odyssey and improve patient outcomes for rare diseases.