Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Epistasis Analysis

Epistasis Analysis

Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

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...

Dihybrid Crosses

Dihybrid Crosses

Epistasis

Epistasis

In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...

Punnett Squares

Punnett Squares

Polygenic Traits

Polygenic Traits

You might also read

Related Articles

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

Sort by

Same author

Dynamic genetic regulation of gene expression during cellular differentiation.

Science (New York, N.Y.)·2019

Same author

Type I interferon signaling genes in recurrent major depression: increased expression detected by whole-blood RNA sequencing.

Molecular psychiatry·2013

Same author

Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?

Diabetologia·2009

Same author

ORegAnno: an open access database and curation system for literature-derived promoters, transcription factor binding sites and regulatory variation.

Bioinformatics (Oxford, England)·2006

Same author

cisRED: a database system for genome-scale computational discovery of regulatory elements.

Nucleic acids research·2005

Same author

Decomposing gene expression into cellular processes.

Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing·2003

Same journal

A novel pathogenic synonymous DHCR7 variant unveiled by aberrant splicing in Smith-Lemli-Opitz syndrome.

Human genetics·2026

Same journal

Blending borders: reconstructing the genetic history of the Sindhi population.

Human genetics·2026

Same journal

Within-sibling attenuation of polygenic risk score accuracy: investigating the effects of principal component analysis, LD score regression, and mixed model association in the UK Biobank.

Human genetics·2026

Same journal

Long-read genome sequencing resolves a de novo complex 18q12.1q21.2 triplication causing partial tetrasomy and reveals its underlying mechanism.

Human genetics·2026

Same journal

A genetic variant of adenylate cyclase 7 associated with ulcerative colitis shows impaired function and G-protein-coupled receptor signaling.

Human genetics·2026

Same journal

AI in variant analysis: fast track to genetic diagnoses.

Human genetics·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Apr 30, 2026

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

Determining causality and consequence of expression quantitative trait loci.

A Battle¹, S B Montgomery

¹Department of Computer Science, Johns Hopkins University, Baltimore, MD, 21218, USA, ajbattle@cs.stanford.edu.

|April 29, 2014

Summary

This summary is machine-generated.

Identifying causal regulatory variants from expression quantitative trait loci (eQTLs) is crucial for understanding genetic diseases. This review covers methods to pinpoint these variants and predict their effects on traits.

More Related Videos

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Related Experiment Videos

Last Updated: Apr 30, 2026

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

Genomics
Molecular Biology
Bioinformatics

Background:

Expression quantitative trait loci (eQTLs) are the most common functional consequence of genetic variation.
Thousands of eQTLs have been identified across human genes and tissues, serving as a resource for disease research.

Purpose of the Study:

To review computational and experimental methods for identifying causal regulatory variants.
To discuss approaches for predicting the phenotypic consequences of these variants.

Main Methods:

Leveraging large-scale genomic data and functional genomics.
Employing computational algorithms for variant analysis.
Utilizing experimental validation techniques.

Main Results:

Advances in genomics and functional genomics enable the dissection of eQTLs to find causal variants.
Identifying causal variants improves understanding of molecular mechanisms influencing traits.
This facilitates the development of genome-scale variant interpretation approaches.

Conclusions:

Dissecting eQTLs to identify causal regulatory variants is key to understanding disease.
Current methods offer powerful tools for variant interpretation and prediction of phenotypic outcomes.