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

Genomics02:02

Genomics

39.7K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
39.7K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

15.3K
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...
15.3K
Rous Sarcoma Virus (RSV) and Cancer01:03

Rous Sarcoma Virus (RSV) and Cancer

6.2K
Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand  RNA genome. Its genome consists of four main open...
6.2K
Hazard Ratio01:12

Hazard Ratio

565
The hazard ratio (HR) is a widely used measure in clinical trials to compare the risk of events, such as death or disease recurrence, between two groups over time. It reflects the ratio of hazard rates—the instantaneous risk of the event occurring—between a treatment group and a control group. This measure provides valuable insights into the relative effectiveness of a treatment by assessing how the risk of an event differs between the two groups.
For example, in a clinical trial...
565
Combination Therapies and Personalized Medicine02:50

Combination Therapies and Personalized Medicine

5.9K
Combining two or more treatment methods increases the life span of cancer patients while reducing damage to vital organs or tissue from the overuse of a single treatment. Combination therapy also targets different cancer-inducing pathways, thus reducing the chances of developing resistance to treatment.
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
5.9K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

17.9K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
17.9K

You might also read

Related Articles

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

Sort by
Same author

Systematic identification of rare disease patients in electronic health records enables evaluation of clinical outcomes.

Scientific reports·2026
Same author

CURE ID: A Platform to Collect Real-World Treatment Data for Drug Repurposing in Rare Genetic Disorders.

American journal of medical genetics. Part C, Seminars in medical genetics·2026
Same author

Mondo: integrating disease terminology across communities.

Genetics·2025
Same author

Aligning Orphanet Classification to Identify Disease Characteristics among Rare Disease Clusters.

Proceedings. IEEE International Conference on Bioinformatics and Biomedicine·2025
Same author

Impact of Preexisting Rare Diseases on COVID-19 Severity, Reinfection, and Long COVID, and the Modifying Effects of Vaccination and Antiviral Therapy: A Retrospective Study from the N3C Data Enclave.

medRxiv : the preprint server for health sciences·2025
Same author

Systematic identification of rare disease patients in electronic health records enables evaluation of clinical outcomes.

medRxiv : the preprint server for health sciences·2025
Same journal

A Knowledge-Guided Large Language Model Framework for Microbiome-Based Disease Diagnosis.

Proceedings. IEEE International Conference on Bioinformatics and Biomedicine·2026
Same journal

Vital Measurements of Hospitalized COVID-19 Patients as a Predictor of Long COVID: An EHR-based Cohort Study from the RECOVER Program in N3C.

Proceedings. IEEE International Conference on Bioinformatics and Biomedicine·2026
Same journal

Geospatial Analysis of Socioeconomic Equity and Environmental Factors Influencing Lung Cancer Prevalence in US.

Proceedings. IEEE International Conference on Bioinformatics and Biomedicine·2026
Same journal

Modeling TCR-pMHC Binding with Dual Encoders and Cross-Attention Fusion.

Proceedings. IEEE International Conference on Bioinformatics and Biomedicine·2026
Same journal

Utilizing Large Language Models for Zero-Shot Medical Ontology Extension from Clinical Notes.

Proceedings. IEEE International Conference on Bioinformatics and Biomedicine·2026
Same journal

Uncovering the Role of Neuropsychiatric Symptoms in Cognitive Impairment Progression.

Proceedings. IEEE International Conference on Bioinformatics and Biomedicine·2026
See all related articles

Related Experiment Video

Updated: Jan 18, 2026

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

1.3K

Scientific Evidence Based Knowledge Graph in Rare Diseases.

Qian Zhu1, Ruizheng Liu2, Gunjan Vatas3

  • 1Division of Pre-Clinical Innovation, National Center for Advancing Translational Sciences, Rockville, USA.

Proceedings. IEEE International Conference on Bioinformatics and Biomedicine
|September 11, 2025
PubMed
Summary
This summary is machine-generated.

This study addresses rare disease data scarcity by extracting biomedical information from PubMed articles. The data is presented in a knowledge graph to support future rare disease research.

Keywords:
Knowledge GraphNeo4jPubMedRare Diseases

More Related Videos

A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports
07:35

A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports

Published on: October 13, 2023

2.1K
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

14.2K

Related Experiment Videos

Last Updated: Jan 18, 2026

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

1.3K
A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports
07:35

A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports

Published on: October 13, 2023

2.1K
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

14.2K

Area of Science:

  • Biomedical Informatics
  • Rare Disease Research
  • Data Science

Background:

  • Rare diseases present significant challenges due to limited available data for preclinical and clinical studies.
  • Leveraging existing scientific publications is crucial for comprehensive rare disease research.
  • Effective extraction and generation of scientific evidence from literature are essential.

Purpose of the Study:

  • To develop a method for utilizing accumulated scientific publications in rare diseases.
  • To extract and semantically present biomedical information from rare disease literature.
  • To establish a knowledge graph for supporting rare disease research.

Main Methods:

  • Obtained rare disease-related articles from PubMed.
  • Extracted diverse types of biomedical information.
  • Developed a knowledge graph using Neo4j and a predefined data model.

Main Results:

  • Successfully extracted and integrated biomedical information from rare disease publications.
  • Created a semantically rich knowledge graph.
  • Established a data infrastructure to support rare disease research.

Conclusions:

  • The developed knowledge graph effectively organizes biomedical information from rare disease literature.
  • This approach enhances the accessibility and utility of scientific evidence for rare disease research.
  • The knowledge graph serves as a valuable resource for advancing rare disease studies.