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

Histone Variants at the Centromere02:30

Histone Variants at the Centromere

5.0K
Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
5.0K
Association Areas of the Cortex01:21

Association Areas of the Cortex

9.1K
Association areas are regions of the cerebral cortex that do not have a specific sensory or motor function. Instead, they integrate and interpret information from various sources to enable higher cognitive processes such as memory, learning, and decision-making. Some key association areas include the following:
Prefrontal Association Area: This area is located in the frontal lobe and is involved in planning, decision-making, and moderating social behavior. It connects with primary motor areas,...
9.1K
Associative Learning01:27

Associative Learning

1.3K
Associative learning is a fundamental concept in behavioral psychology, wherein a connection is established between two stimuli or events, leading to a learned response. This process is critical in understanding how behaviors are acquired and modified. Conditioning, the mechanism through which associations are formed, can be divided into two main types: classical conditioning and operant conditioning, each elucidating different aspects of associative learning.
Classical conditioning, also known...
1.3K
Somatosensory, Motor, and Association Cortex01:23

Somatosensory, Motor, and Association Cortex

2.5K
The somatosensory cortex in the parietal lobes is crucial for interpreting sensory data such as touch, temperature, and proprioception. The somatosensory cortex, situated in the parietal lobes, plays a vital role in interpreting sensory information like touch, temperature, and proprioception—awareness of body position. This specialized brain region features an organized structure wherein neurons at the top primarily process sensations originating from the lower body. In contrast, those at...
2.5K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

15.4K
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...
15.4K
Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

7.5K
Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
7.5K

You might also read

Related Articles

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

Sort by
Same author

Risk of Clinical Events in Presymptomatic Familial Cerebral Cavernous Malformations.

European journal of neurology·2026
Same author

Benchmark of Open-Access Star-Allele Callers to Accurately Assess Haplotypes and Phenotypes in Pharmacogenetic Studies.

Clinical pharmacology and therapeutics·2026
Same author

Impact of co-occurrent assortative mating and vertical cultural transmission on measures of genetic associations.

Theoretical population biology·2026
Same author

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL.

Annals of clinical and translational neurology·2026
Same author

Tocotrienol-rich vitamin E complex in CADASIL (T3CAD): a randomised, double-blind, placebo-controlled trial.

EClinicalMedicine·2026
Same author

SCN2A variants are associated with familial and sporadic hemiplegic migraine.

Brain : a journal of neurology·2026
Same journal

Applying Bayesian Multivariable Mendelian Randomisation to Prioritise Candidate Causal Traits From High-Dimensional Data: Illustration From Estimation of the Effect of Maternal Metabolites on Offspring Birthweight.

Genetic epidemiology·2026
Same journal

Individualized Bayesian Inference Identifies Novel Genetic Variants for Parkinson's Disease.

Genetic epidemiology·2026
Same journal

DRIVE v3: Command Line Application for Identity-by-Descent Haplotype Clustering in Large Biobank Scale Data.

Genetic epidemiology·2026
Same journal

Deep Unsupervised Domain Adaptation for Translating Cancer Dependency Maps From Cell Lines to Breast Cancer Tumor Genomics.

Genetic epidemiology·2026
Same journal

Polygenic Risk Scores for Incident Dementia in the Multi-Ethnic Study of Atherosclerosis.

Genetic epidemiology·2026
Same journal

Outcome and Exposure Polygenic Risk Scores Can Help Reduce Information Bias and Selection Bias in Regression Estimates From Biobank Data.

Genetic epidemiology·2026
See all related articles

Related Experiment Video

Updated: Jan 24, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.2K

Rare variant association testing for multicategory phenotype.

Ozvan Bocher1, Gaëlle Marenne1, Aude Saint Pierre1

  • 1Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.

Genetic Epidemiology
|May 16, 2019
PubMed
Summary
This summary is machine-generated.

This study introduces a new method using multinomial regression for genetic association tests with rare variants and multiple disease categories. This approach improves analysis when genetic factors differ across patient subgroups, outperforming standard methods.

Keywords:
associationburden testsdisease severityrare variantsubphenotypes

More Related Videos

Detection and Enrichment of Rare Antigen-specific B Cells for Analysis of Phenotype and Function
09:25

Detection and Enrichment of Rare Antigen-specific B Cells for Analysis of Phenotype and Function

Published on: February 16, 2017

12.8K
Detection of a CDH1 Rare Transcript Variant in Fresh-frozen Gastric Cancer Tissues by Chip-based Digital PCR
09:16

Detection of a CDH1 Rare Transcript Variant in Fresh-frozen Gastric Cancer Tissues by Chip-based Digital PCR

Published on: February 5, 2018

6.5K

Related Experiment Videos

Last Updated: Jan 24, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.2K
Detection and Enrichment of Rare Antigen-specific B Cells for Analysis of Phenotype and Function
09:25

Detection and Enrichment of Rare Antigen-specific B Cells for Analysis of Phenotype and Function

Published on: February 16, 2017

12.8K
Detection of a CDH1 Rare Transcript Variant in Fresh-frozen Gastric Cancer Tissues by Chip-based Digital PCR
09:16

Detection of a CDH1 Rare Transcript Variant in Fresh-frozen Gastric Cancer Tissues by Chip-based Digital PCR

Published on: February 5, 2018

6.5K

Area of Science:

  • Genetics
  • Statistical genetics
  • Computational biology

Background:

  • Genetic association studies commonly focus on continuous or binary traits.
  • Existing methods for disease heterogeneity in genetic studies are not optimized for rare variants.
  • Rare variants, with potentially stronger effects and heterogeneous distribution, warrant specialized analytical approaches.

Purpose of the Study:

  • To develop and evaluate statistical methods for rare variant association testing in multicategory phenotypes.
  • To extend existing burden tests to accommodate disease heterogeneity among case subgroups.
  • To provide a tool for analyzing rare variants in complex diseases with distinct subtypes.

Main Methods:

  • Proposed an extension of burden tests using multinomial regression models.
  • Enabled association tests between rare variants and multicategory phenotypes.
  • Evaluated Type I error and power of CAST and WSS burden tests via simulations.

Main Results:

  • Multinomial regression demonstrated an advantage over logistic regression in scenarios with genetic heterogeneity between case subgroups.
  • Simulations confirmed the effectiveness of the proposed method in handling multicategory phenotypes.
  • Analysis of Moyamoya disease data showed improved performance of burden tests when cases were stratified by age-of-onset.

Conclusions:

  • The proposed multinomial regression-based burden tests are effective for analyzing rare variants in multicategory phenotypes, especially with genetic heterogeneity.
  • Stratifying cases by relevant clinical features, such as age-of-onset, can enhance the power of rare variant association studies.
  • The R package "Ravages" is available for implementing these advanced association tests.