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 Experiment Videos

Phenome connections.

Martin Oti1, Martijn A Huynen, Han G Brunner

  • 1Centre for Molecular and Biomolecular Informatics, Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands.

Trends in Genetics : TIG
|February 5, 2008
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Base editing-derived models of human WDR34 and WDR60 disease alleles replicate retrograde intraflagellar transport (IFT) and hedgehog signaling defects.

Communications biology·2026
Same author

A novel spliceosomopathy caused by de novo SF3B3 variants.

Genome medicine·2026
Same author

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

American journal of human genetics·2025
Same author

Sex Differences in Prognosis of Patients With Genetic Dilated Cardiomyopathy.

Circulation. Heart failure·2025
Same author

Chromosome-scale genome assembly and gene annotation of the hydrothermal vent annelid Alvinella pompejana yield insight into animal evolution in extreme environments.

BMC biology·2025
Same author

Mesenchymal stem cells suppress NF-κB and ERK signalling while enhancing chemotaxis in CD4<sup>+</sup> T cells.

Scientific reports·2025
Same journal

Genetic suppressors as new therapeutic targets for Mendelian diseases.

Trends in genetics : TIG·2026
Same journal

Beyond housekeeping: snRNA diversity, regulation, and human disease.

Trends in genetics : TIG·2026
Same journal

Rethinking mitochondrial metabolism: Intraindividual variability meets population constraints.

Trends in genetics : TIG·2026
Same journal

A role for epigenetics in rapid adaptation.

Trends in genetics : TIG·2026
Same journal

The myth of asexual fungi.

Trends in genetics : TIG·2026
Same journal

Rethinking molecular evolution through protein language model embeddings.

Trends in genetics : TIG·2026
See all related articles

Human phenomics reveals hidden connections between genetic diseases. This research shows that seemingly unrelated conditions often share underlying genetic causes, reshaping our understanding of human health.

Area of Science:

  • Genetics
  • Human Phenomics
  • Bioinformatics

Background:

  • Human phenomics systematically analyzes the relationships among all human genetic diseases.
  • Understanding these connections is crucial for advancing genetic disease research.

Purpose of the Study:

  • To illustrate the power of phenomics in uncovering novel links between distinct human diseases.
  • To suggest shared genetic underpinnings for conditions previously considered unrelated.

Main Methods:

  • Systematic assessment of human genetic diseases.
  • Analysis of disease overlap and relationships using phenomic data.

Main Results:

  • Revealed significant links between previously distinct human diseases.

Related Experiment Videos

  • Demonstrated shared genetic bases for conditions thought to be separate.
  • Indicated that the human phenome is an interconnected landscape of diseases.
  • Conclusions:

    • Phenomics provides powerful insights into the complex web of human genetic diseases.
    • The human phenome reflects overlapping molecular causation, linking diverse conditions.
    • This approach redefines our view of disease relationships and genetic etiology.