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

Translation01:31

Translation

17.2K
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
17.2K
Translation01:31

Translation

154.2K
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
154.2K
Enzyme-Linked Immunosorbent Assay01:33

Enzyme-Linked Immunosorbent Assay

16.9K
In 1971, Peter Perlman and Eva Engvall developed an Enzyme-linked immunosorbent assay (ELISA or EIA). ELISA differs from western blot in that the assays are conducted in microtiter plates or in vivo rather than on an absorbent membrane.
There are many different types of ELISAs, but they all involve an antibody molecule whose constant region binds an enzyme, leaving the variable region free to bind its specific antigen.  Enzyme-substrate reaction allows the antigen to be visualized or...
16.9K
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies01:22

Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies

290
The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
290
Electrocardiogram01:29

Electrocardiogram

4.9K
An electrocardiogram (ECG or EKG) is a critical diagnostic tool that records the electrical signals produced by the heart during each heartbeat. This recording is achieved through electrodes placed strategically on the arms, legs, and chest. The electrocardiograph amplifies these signals and produces 12 distinct tracings, offering a comprehensive understanding of the heart's electrical activity.
Three major waveforms are present in a typical ECG recording: the P wave, the QRS complex, and...
4.9K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

15.1K
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...
15.1K

You might also read

Related Articles

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

Sort by
Same author

Spatiomolecular mapping reveals anatomical organization of heterogeneous cell types in the human nucleus accumbens.

Neuron·2026
Same author

<i>Trans</i>-eQTLs reveal the architecture of human gene regulatory networks.

medRxiv : the preprint server for health sciences·2026
Same author

CrossFilt: a cross-species filtering tool that eliminates alignment bias in comparative genomics studies of primates.

Genome biology·2026
Same author

Beyond the mean: genetic control of gene expression fidelity and dispersion.

bioRxiv : the preprint server for biology·2026
Same author

Beyond the baseline: mapping the context-specific regulatory landscape of disease.

Trends in genetics : TIG·2026
Same author

Frailty phenotype reveals heterogeneity in aging and distinct taurine associations.

npj aging·2026

Related Experiment Video

Updated: Dec 9, 2025

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

11.2K

Where Are the Disease-Associated eQTLs?

Benjamin D Umans1, Alexis Battle2, Yoav Gilad3

  • 1Department of Medicine, University of Chicago, Chicago, IL, USA.

Trends in Genetics : TIG
|September 11, 2020
PubMed
Summary

Many genetic variants linked to disease show no clear effect on gene expression. This may be because expression is studied in the wrong cell types or conditions. New methods are needed to study gene regulation in disease-relevant contexts.

Keywords:
GTeXGWASQTL mappingcomplex traitsdynamic gene regulationeQTL

More Related Videos

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.3K
Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

12.4K

Related Experiment Videos

Last Updated: Dec 9, 2025

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

11.2K
Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.3K
Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

12.4K

Area of Science:

  • Genomics
  • Molecular Biology
  • Systems Biology

Background:

  • Disease-associated variants often reside in regulatory regions but lack detectable effects on gene expression.
  • Current large-scale gene expression studies are limited by sample availability (opportunistic, postmortem, adult) and may miss crucial cell types or disease states.
  • The dynamic and context-specific nature of gene regulation is key to understanding variant effects.

Purpose of the Study:

  • To review recent findings on gene expression and disease variants.
  • To propose an alternative strategy for studying gene regulation in disease-relevant contexts.
  • To highlight new technologies for expanding regulatory mapping.

Main Methods:

  • Literature review of recent findings in gene regulation and disease genetics.
  • Evaluation of limitations in current gene expression analysis methods.
  • Discussion of emerging technologies for cellular and condition-specific gene expression profiling.

Main Results:

  • A significant gap exists between identified disease variants and their functional impact on gene expression.
  • Existing methodologies are insufficient to capture the cell-type and condition-specific regulatory effects relevant to disease.
  • New technological approaches offer promise for more comprehensive regulatory mapping.

Conclusions:

  • Understanding the functional impact of disease variants requires studying gene expression in relevant cellular contexts and states.
  • Future research should leverage advanced technologies to explore dynamic gene regulation.
  • An expanded regulatory mapping framework is essential for advancing precision medicine.