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

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

15.2K
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...
15.2K

You might also read

Related Articles

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

Sort by
Same author

Combined multi-omics and multi-spectral profiling of plasma extracellular vesicles reveals liquid biopsy biomarkers for glioma diagnosis.

Cell reports. Medicine·2026
Same author

Temporal trends in evidence supporting novel drug target discovery.

Nature communications·2025
Same author

VizGenie: Toward Self-Refining, Domain-Aware Workflows for Next-Generation Scientific Visualization.

IEEE transactions on visualization and computer graphics·2025
Same author

Insights from the ground: A qualitative investigation of retailer perspectives of the challenges and opportunities in the legal cannabis market in Newfoundland and Labrador, Canada.

PloS one·2025
Same author

Rapid diagnostic tests to inform clinical decision-making for antifungal stewardship in the ICU: a qualitative study with NHS staff, patients, and their legal representatives.

Health technology assessment (Winchester, England)·2025
Same author

Community-based testing of migrants for infectious diseases (COMBAT-ID): observational cohort study measuring the effectiveness of routine testing for infectious diseases among migrants attending primary care.

EClinicalMedicine·2025

Related Experiment Video

Updated: Dec 31, 2025

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
05:01

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information

Published on: July 1, 2020

3.6K

The open targets post-GWAS analysis pipeline.

Gareth Peat1,2, William Jones1,3, Michael Nuhn1,2

  • 1European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK.

Bioinformatics (Oxford, England)
|January 14, 2020
PubMed
Summary
This summary is machine-generated.

This study introduces a new pipeline to integrate genome-wide association studies (GWAS) with functional epigenetic data, helping identify causal genes for drug targets. The results are available via an interactive data resource.

More Related Videos

The Application of Open Searching-based Approaches for the Identification of Acinetobacter baumannii O-linked Glycopeptides
08:37

The Application of Open Searching-based Approaches for the Identification of Acinetobacter baumannii O-linked Glycopeptides

Published on: November 2, 2021

2.5K
Using Human Differentially Expressed Gene Lists to Perform Downstream Pathway Enrichment Analysis and Target Prioritization
03:08

Using Human Differentially Expressed Gene Lists to Perform Downstream Pathway Enrichment Analysis and Target Prioritization

Published on: October 3, 2025

831

Related Experiment Videos

Last Updated: Dec 31, 2025

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
05:01

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information

Published on: July 1, 2020

3.6K
The Application of Open Searching-based Approaches for the Identification of Acinetobacter baumannii O-linked Glycopeptides
08:37

The Application of Open Searching-based Approaches for the Identification of Acinetobacter baumannii O-linked Glycopeptides

Published on: November 2, 2021

2.5K
Using Human Differentially Expressed Gene Lists to Perform Downstream Pathway Enrichment Analysis and Target Prioritization
03:08

Using Human Differentially Expressed Gene Lists to Perform Downstream Pathway Enrichment Analysis and Target Prioritization

Published on: October 3, 2025

831

Area of Science:

  • Genomics
  • Bioinformatics
  • Pharmacogenomics

Background:

  • Genome-wide association studies (GWAS) identify genetic variants associated with traits, but many are in non-coding regions.
  • Linking these variants to causal protein-coding genes requires integrating genetic data with functional information.

Purpose of the Study:

  • To develop a novel data integration pipeline for analyzing GWAS results with epigenetic and cis-regulatory data.
  • To facilitate the identification of likely causal genes for potential drug targets.

Main Methods:

  • The pipeline integrates GWAS data with experimental epigenetic datasets (ChIP-Seq, Promoter-Capture Hi-C, eQTL).
  • It analyzes and presents integrated data in a comprehensive report.
  • The processed data is accessible through an interactive data browser.

Main Results:

  • A novel data integration pipeline has been developed and implemented.
  • The pipeline successfully combines GWAS and functional genomic data for gene inference.
  • An interactive data resource is available for exploring the integrated findings.

Conclusions:

  • The developed pipeline aids in identifying causal genes from GWAS by integrating functional genomic data.
  • This approach enhances the discovery of potential drug targets by bridging genetic associations and gene regulation.