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

Epistasis Analysis01:09

Epistasis Analysis

6.3K
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...
6.3K
Epistasis01:39

Epistasis

51.7K
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...
51.7K
Pleiotropy01:33

Pleiotropy

44.4K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
44.4K
Chi-square Analysis02:46

Chi-square Analysis

45.1K
The chi-square test is a statistical hypothesis test. It is used to check whether there is a significant difference between an expected value and an observed value. In the context of genetics, it enables us to either accept or reject a hypothesis, based on how much the observed values deviate from the expected values.
The chi-square test was developed by Pearson in 1990.
The first step of performing a Chi-square analysis is to establish a null hypothesis, which assumes that there is no real...
45.1K
Exon Recombination02:32

Exon Recombination

4.4K
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
4.4K
Cis-regulatory Sequences02:02

Cis-regulatory Sequences

12.3K
Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
12.3K

You might also read

Related Articles

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

Sort by
Same author

Ensuring Fairness in Detecting Mild Cognitive Impairment with MRI.

AMIA ... Annual Symposium proceedings. AMIA Symposium·2025
Same author

Enhancing clinical outcome predictions through effective sample size evaluation in graph-based digital twin modeling.

BioData mining·2025
Same author

Perceptual and technical barriers in sharing and formatting metadata accompanying omics studies.

Cell genomics·2025
Same author

Erratum: A latent transfer learning method for estimating hospital-specific post-acute healthcare demands following SARS-CoV-2 infection.

Patterns (New York, N.Y.)·2025
Same author

AI as an accelerator for defining new problems that transcends boundaries.

BioData mining·2025
Same author

Preoperative anemia is an unsuspecting driver of machine learning prediction of adverse outcomes after lumbar spinal fusion.

The spine journal : official journal of the North American Spine Society·2025
Same journal

Isolation of Mesenchymal Stem Cell-Derived Extracellular Vesicles.

Methods in molecular biology (Clifton, N.J.)·2026
Same journal

Modeling Melanoma Immune Surveillance by CAR-T Cells in Human Skin Organoids.

Methods in molecular biology (Clifton, N.J.)·2026
Same journal

Stepwise Optimization of a Matrigel-Based In Vitro Angiogenesis Assay for Reproducible and Quantifiable 2D-Tube Formation Using HUVECs.

Methods in molecular biology (Clifton, N.J.)·2026
Same journal

Quantifying Mechanical Properties of Fresh Ovarian Tissue with Optical Brillouin Microscopy.

Methods in molecular biology (Clifton, N.J.)·2026
Same journal

3D Chromatin Architecture During Early Development: New Methods and New Findings.

Methods in molecular biology (Clifton, N.J.)·2026
Same journal

Metabolic Plasticity in Embryogenesis Throughout the Lens of NAD<sup></sup>.

Methods in molecular biology (Clifton, N.J.)·2026
See all related articles

Related Experiment Video

Updated: Apr 20, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

23.5K

Epistasis analysis using ReliefF.

Jason H Moore1

  • 1Department of Community and Family Medicine, Geisel School of Medicine, DHMC, One Medical Center Drive, HB 7937, Lebanon, NH, 03756, USA, Jason.H.Moore@Dartmouth.edu.

Methods in Molecular Biology (Clifton, N.J.)
|November 19, 2014
PubMed
Summary
This summary is machine-generated.

The ReliefF algorithm detects gene interactions (epistasis) in genetic studies. Its enhanced versions improve the power of genetic analysis for complex diseases.

More Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.6K
Probing the Limits of Egg Recognition Using Egg Rejection Experiments Along Phenotypic Gradients
07:34

Probing the Limits of Egg Recognition Using Egg Rejection Experiments Along Phenotypic Gradients

Published on: August 22, 2018

8.7K

Related Experiment Videos

Last Updated: Apr 20, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

23.5K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.6K
Probing the Limits of Egg Recognition Using Egg Rejection Experiments Along Phenotypic Gradients
07:34

Probing the Limits of Egg Recognition Using Egg Rejection Experiments Along Phenotypic Gradients

Published on: August 22, 2018

8.7K

Area of Science:

  • Genetics
  • Machine Learning
  • Bioinformatics

Background:

  • Epistasis, or gene-gene interaction, is crucial for understanding complex human diseases.
  • Traditional genetic association studies often struggle to detect epistasis effectively.

Purpose of the Study:

  • Introduce the ReliefF algorithm for detecting and characterizing epistasis.
  • Highlight extensions that enhance the power of genetic analysis.
  • Demonstrate ReliefF's application in real-world disease studies.

Main Methods:

  • The study introduces the ReliefF machine learning algorithm.
  • Discusses extensions designed to improve epistasis detection.
  • Presents examples of its use in human disease genetics.

Main Results:

  • ReliefF and its extensions offer a powerful approach for epistasis detection.
  • Modifications significantly enhance the algorithm's power in genetic analysis.
  • The method has been successfully applied to studies of complex human diseases.

Conclusions:

  • ReliefF is a valuable tool for uncovering gene-gene interactions in genetic association studies.
  • Its extensions provide increased power for analyzing complex genetic architectures.
  • The algorithm facilitates research into the genetic basis of human diseases.