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

14.9K
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...
14.9K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

17.3K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
17.3K
Multiple Allele Traits01:49

Multiple Allele Traits

36.6K
The Concept of Multiple Allelism
36.6K
Human Genetics01:28

Human Genetics

1.0K
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
1.0K
Genetic Screens02:46

Genetic Screens

5.3K
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...
5.3K
Genetic Variation01:25

Genetic Variation

1.0K
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
1.0K

You might also read

Related Articles

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

Sort by
Same author

Detecting latent interaction effects when analyzing binary traits.

PLoS genetics·2025
Same author

The X chromosome's influences on the human brain.

Science advances·2025
Same author

Better together against genetic heterogeneity: A sex-combined joint main and interaction analysis of 290 quantitative traits in the UK Biobank.

PLoS genetics·2024
Same author

Statistical Learning of Large-Scale Genetic Data: How to Run a Genome-Wide Association Study of Gene-Expression Data Using the 1000 Genomes Project Data.

Statistics in biosciences·2024
Same author

Comprehensive whole-genome analyses of the UK Biobank reveal significant sex differences in both genotype missingness and allele frequency on the X chromosome.

Human molecular genetics·2023
Same author

The hidden factor: accounting for covariate effects in power and sample size computation for a binary trait.

Bioinformatics (Oxford, England)·2023
Same journal

Fast penalized generalized estimating equations for large longitudinal functional datasets.

Biometrics·2026
Same journal

Causally-interpretable random-effects meta-analysis.

Biometrics·2026
Same journal

Statistical inference for mean function of partially observed functional time series.

Biometrics·2026
Same journal

Subgroup identification via Interaction Tree and Mixed Model for Repeated Measures with application to Alzheimer's disease.

Biometrics·2026
Same journal

Finite mixtures of linear quantile regressions with concomitant variables: a solution to endogeneity in longitudinal data modeling.

Biometrics·2026
Same journal

Discussion on "INTACT: a method for integration of longitudinal physical activity data from multiple sources" by Jingru Zhang, Erjia Cui, Hongzhe Li, and Haochang Shou.

Biometrics·2026
See all related articles

Related Experiment Video

Updated: Nov 12, 2025

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

23.2K

A generalized robust allele-based genetic association test.

Lin Zhang1, Lei Sun1,2

  • 1Department of Statistical Sciences, Faculty of Arts and Science, University of Toronto, Toronto, Canada.

Biometrics
|March 17, 2021
PubMed
Summary
This summary is machine-generated.

We developed a new allele-based regression model for genetic association studies. This robust method overcomes limitations of classical tests, offering greater flexibility for complex traits and genetic markers.

Keywords:
Hardy-Weinberg equilibriumallele-based association analysiscorrelationdependent samplemultiple phenotypesmultiple populationsrobustness

More Related Videos

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
08:27

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

Published on: July 27, 2021

4.5K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

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

Published on: June 21, 2018

10.4K

Related Experiment Videos

Last Updated: Nov 12, 2025

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

23.2K
Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
08:27

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

Published on: July 27, 2021

4.5K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

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

Published on: June 21, 2018

10.4K

Area of Science:

  • Genetics
  • Statistical Genetics
  • Bioinformatics

Background:

  • Classical allele-based association tests are powerful but limited by Hardy-Weinberg equilibrium (HWE) assumptions.
  • These tests are not suitable for continuous traits or easily adjusted for covariates and sample correlations.

Purpose of the Study:

  • To develop a generalized and robust allele-based regression model for genetic association analysis.
  • To create a unifying framework that addresses limitations of classical allelic tests.

Main Methods:

  • Proposed a novel allele-based regression model with individual alleles as the response variable.
  • Derived a score test statistic with a correction factor for HWE departures.
  • Extended the method for continuous traits, accounting for trait values and Y-dependent sampling.

Main Results:

  • The proposed score test statistic adjusts for HWE deviations and includes the classical allelic test as a special case.
  • The method is valid for continuous traits under Y-dependent sampling.
  • The framework accommodates multiple phenotypes, multiallelic markers, covariates, sample correlations, and population heterogeneity.

Conclusions:

  • The developed allele-based regression model provides a robust and versatile approach for genetic association studies.
  • This method enhances the analysis of complex traits and genetic architectures by overcoming classical test limitations.