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

Receptor-mediated Endocytosis01:39

Receptor-mediated Endocytosis

110.7K
Overview
110.7K
Receptor-mediated Endocytosis01:20

Receptor-mediated Endocytosis

7.6K
Receptor-mediated endocytosis is when bulk amounts of specific molecules are imported into a cell after binding to cell surface receptors. The molecules bound to these receptors are taken into the cell through inward folding of the cell surface membrane, which is eventually pinched off into a vesicle within the cell. Structural proteins, such as clathrin, coat the budding vesicle.
Clathrin-Mediated Endocytosis of LDL
One well-characterized example of receptor-mediated endocytosis is the...
7.6K
Multi-input and Multi-variable systems01:22

Multi-input and Multi-variable systems

403
Cruise control systems in cars are designed as multi-input systems to maintain a driver's desired speed while compensating for external disturbances such as changes in terrain. The block diagram for a cruise control system typically includes two main inputs: the desired speed set by the driver and any external disturbances, such as the incline of the road. By adjusting the engine throttle, the system maintains the vehicle's speed as close to the desired value as possible.
In the absence of...
403
Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

11.7K
The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
Usually, Upf3 binds to an Exon Junction Complex (EJC) at mRNA splice sites. If a ribosome fully translates the mRNA,...
11.7K
Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

3.3K
3.3K
Multi-Step Reactions02:31

Multi-Step Reactions

8.7K
Chemical reactions often occur in a stepwise fashion involving two or more distinct reactions taking place in a sequence. A balanced equation indicates the reacting species and the product species, but it reveals no details about how the reaction occurs at the molecular level. The reaction mechanism (or reaction path) provides details regarding the precise, step-by-step process by which a reaction occurs. Each of the steps in a reaction mechanism is called an elementary reaction. These...
8.7K

You might also read

Related Articles

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

Sort by
Same author

Predicted Effector Gene Aggregation, Standards and Unified Schema (PEGASUS): A Community Framework for Effector Gene Reporting.

bioRxiv : the preprint server for biology·2026
Same author

Competing-triggering effect models for multitype recurrent event data.

Biometrics·2026
Same author

Associations of Combined Genetic and Lifestyle Risks With Incident Type 2 Diabetes in the UK Biobank.

Diabetes·2026
Same author

Deep single-cell decoding of human pancreatic islets reveals T2D β-cell gene expression defects.

The EMBO journal·2026
Same author

GEiPRS: a fast and powerful machine learning method for polygenic risk score prediction by leveraging genotype-environment interactions.

Briefings in bioinformatics·2026
Same author

Higher eQTL power reveals signals that boost GWAS colocalization.

American journal of human genetics·2026
Same journal

3DICE: Interpretable 3D Cross-Modal Learning for Drug-Target Interaction Prediction and Large-Scale Drug Discovery.

Bioinformatics (Oxford, England)·2026
Same journal

KASSPer: Kinase Active Site Structure Prediction using Protein and Ligand Language Models and Its Application to Virtual Screening.

Bioinformatics (Oxford, England)·2026
Same journal

IDR searcher: a search engine solution for public image resources.

Bioinformatics (Oxford, England)·2026
Same journal

KCFtools: Rapid alignment-free method for introgression screening and GWAS using k-mer profiles.

Bioinformatics (Oxford, England)·2026
Same journal

Meta2DB: Curated shotgun metagenomic feature sets and metadata for health state prediction.

Bioinformatics (Oxford, England)·2026
Same journal

conMItion: an R package adjusting confounding factors for associations in multi-omics.

Bioinformatics (Oxford, England)·2026
See all related articles

Related Experiment Video

Updated: Jan 24, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

39.9K

Multi-SNP mediation intersection-union test.

Wujuan Zhong1, Cassandra N Spracklen2, Karen L Mohlke2

  • 1Department of Biostatistics, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.

Bioinformatics (Oxford, England)
|May 18, 2019
PubMed
Summary
This summary is machine-generated.

We developed a new method, SMUT, to interpret genetic variants from Genome-Wide Association Studies (GWAS). SMUT effectively identifies gene mediators for complex traits, improving upon existing approaches.

More Related Videos

Frequency and Distribution of Crossovers in Caenorhabditis elegans Meiosis by SNP Genotyping using Real-time PCR
06:18

Frequency and Distribution of Crossovers in Caenorhabditis elegans Meiosis by SNP Genotyping using Real-time PCR

Published on: July 11, 2025

846
Multi-photon Intracellular Sodium Imaging Combined with UV-mediated Focal Uncaging of Glutamate in CA1 Pyramidal Neurons
10:29

Multi-photon Intracellular Sodium Imaging Combined with UV-mediated Focal Uncaging of Glutamate in CA1 Pyramidal Neurons

Published on: October 8, 2014

14.5K

Related Experiment Videos

Last Updated: Jan 24, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

39.9K
Frequency and Distribution of Crossovers in Caenorhabditis elegans Meiosis by SNP Genotyping using Real-time PCR
06:18

Frequency and Distribution of Crossovers in Caenorhabditis elegans Meiosis by SNP Genotyping using Real-time PCR

Published on: July 11, 2025

846
Multi-photon Intracellular Sodium Imaging Combined with UV-mediated Focal Uncaging of Glutamate in CA1 Pyramidal Neurons
10:29

Multi-photon Intracellular Sodium Imaging Combined with UV-mediated Focal Uncaging of Glutamate in CA1 Pyramidal Neurons

Published on: October 8, 2014

14.5K

Area of Science:

  • Genetics
  • Statistical Genetics
  • Bioinformatics

Background:

  • Genome-Wide Association Studies (GWAS) identify numerous variants, primarily in non-coding regions, necessitating mechanistic interpretation.
  • Existing methods struggle to simultaneously test mediation effects of multiple correlated SNPs on phenotypic outcomes via intermediate biological factors like gene expression.

Purpose of the Study:

  • To introduce the multi-SNP mediation intersection-union test (SMUT) to address the gap in analyzing mediation effects of multiple correlated SNPs.
  • To provide a robust statistical tool for generating mechanistic hypotheses for GWAS variants.

Main Methods:

  • Development and application of the SMUT statistical framework.
  • Extensive simulations to evaluate SMUT's validity and power compared to alternative methods.
  • Application of SMUT to a real dataset of Finnish individuals to identify mediators for plasma adiponectin levels.

Main Results:

  • SMUT demonstrates validity in simulations.
  • SMUT achieves substantial power gains, up to 92%, over existing methods.
  • SMUT successfully identified known mediators for plasma adiponectin levels in a Finnish cohort, which were missed by other methods.

Conclusions:

  • SMUT is a valid and powerful statistical method for mediation analysis in GWAS.
  • SMUT effectively identifies gene expression mediators for complex traits.
  • SMUT facilitates functional follow-up studies for GWAS variants.