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

Genetic Screens02:46

Genetic Screens

5.5K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.5K
In-vitro Mutagenesis01:16

In-vitro Mutagenesis

15.9K
To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.
15.9K
Incomplete Dominance01:43

Incomplete Dominance

29.4K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
29.4K

You might also read

Related Articles

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

Sort by
Same author

An integrative mendelian randomisation and drug mechanism framework for target prioritisation and therapeutic repurposing in major depression.

Translational psychiatry·2026
Same author

Automated full-text screening and accelerated reviews using large language models with context-aware agents: an exploratory analysis in biomarker research.

European heart journal. Digital health·2026
Same author

The immunoproteome and multimorbidity: A Mendelian randomization study.

Science advances·2026
Same author

Cross-organ MRI to assess the relationship between cardiac traits and cerebral white matter hyperintensity volumes.

Communications medicine·2026
Same author

Inhaled corticosteroid withdrawal and mortality rate in trials of triple therapy inhalers for COPD.

Thorax·2026
Same author

Machine learning-enabled systematic review on coded healthcare data in heart failure research.

European heart journal. Digital health·2026
Same journal

Chlorinated VSLSs Surpass HCFCs in CFC-11-Equivalent Emissions for Ozone Layer Depletion in China.

Nature communications·2026
Same journal

Author Correction: Charge transfer in triphenylamine-tetrazine covalent organic frameworks for solar-driven hydrogen peroxide production.

Nature communications·2026
Same journal

Vegetation browning patterns under compound soil and atmospheric dryness in northern permafrost ecosystems.

Nature communications·2026
Same journal

Voltage imaging of CA1 pyramidal cells and SST+ interneurons reveals stability and plasticity mechanisms of spatial firing.

Nature communications·2026
Same journal

Radical-omics reveals the hydrogen-abstraction pathway of isoprene oxidation.

Nature communications·2026
Same journal

Toughening elastomer via sequentially activated multi-pathway energy dissipation.

Nature communications·2026
See all related articles

Related Experiment Video

Updated: Dec 17, 2025

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

21.1K

Genetic drug target validation using Mendelian randomisation.

Amand F Schmidt1,2,3, Chris Finan4,5, Maria Gordillo-Marañón4

  • 1Institute of Cardiovascular Science, Faculty of Population Health, University College London, London, WC1E 6BT, UK. amand.schmidt@ucl.ac.uk.

Nature Communications
|June 28, 2020
PubMed
Summary
This summary is machine-generated.

Mendelian randomisation (MR) analysis using proteins as risk factors strengthens causal inference by reducing horizontal pleiotropy. This approach enhances the reliability of drug target studies in development.

More Related Videos

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.5K
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

Related Experiment Videos

Last Updated: Dec 17, 2025

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

21.1K
Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.5K
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

Area of Science:

  • Genetics
  • Epidemiology
  • Pharmacology

Background:

  • Mendelian randomisation (MR) is crucial for identifying causal risk factors in disease.
  • Horizontal pleiotropy, where genetic variants affect multiple pathways, can undermine MR validity.
  • Proteins, as proximal gene effectors and drug targets, are increasingly important in biomedical research.

Purpose of the Study:

  • To strengthen the 'no horizontal pleiotropy' assumption in MR analyses.
  • To develop a framework for MR studies using proteins as risk factors.
  • To facilitate MR studies of drug targets in pharmaceutical development.

Main Methods:

  • Developed a mathematical framework to contrast MR analysis of proteins versus distal risk factors.
  • Illustrated key model decisions for protein-based MR.
  • Introduced an analytical framework for maximizing statistical power and assessing robustness.

Main Results:

  • Demonstrated that MR with proteins as risk factors inherently strengthens the no horizontal pleiotropy assumption.
  • Provided a method to enhance the power and reliability of MR studies focused on drug targets.
  • Established a robust analytical framework for protein-based causal inference.

Conclusions:

  • MR analysis using proteins as risk factors offers a more robust approach to causal inference.
  • This framework is vital for advancing drug discovery and development by validating drug targets.
  • The study provides essential tools for reliable genetic epidemiology and precision medicine.