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

Human Genetics01:28

Human Genetics

1.4K
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...
1.4K
Genetic Lingo01:11

Genetic Lingo

113.8K
Overview
113.8K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

15.3K
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...
15.3K
Pleiotropy01:33

Pleiotropy

43.2K
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,...
43.2K
Epistasis Analysis01:09

Epistasis Analysis

5.7K
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...
5.7K
Sex-linked Disorders01:43

Sex-linked Disorders

108.3K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
108.3K

You might also read

Related Articles

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

Sort by
Same author

Ophthalmic involvement in VEXAS syndrome and its influence on mortality: insights from the international AIDA network registry.

Frontiers in immunology·2026
Same author

Expanding the ABCA2-associated neurodevelopmental phenotype.

HGG advances·2026
Same author

The perfect storm: autoinflammation, metabolic stress, and thrombolysis in bilateral carotid dissection-a case report.

Journal of neurology·2026
Same author

Novel <i>NFIX</i> variant in a patient with Malan syndrome and associated Chiari type I malformation: a case report.

Frontiers in pediatrics·2026
Same author

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

European journal of human genetics : EJHG·2026
Same author

Recurrent fever and association with severe organ involvement, mortality and treatment outcomes in VEXAS syndrome: data from the AIDA Network.

Frontiers in immunology·2026

Related Experiment Video

Updated: Jan 15, 2026

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

10.3K

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Matthew Jensen1, Corrine Smolen1, Anastasia Tyryshkina1

  • 1Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.

Cell
|October 8, 2025
PubMed
Summary

Secondary genetic variants significantly influence disease presentation in individuals with primary genetic conditions. Understanding these interactions is key to personalized medicine and predicting complex disorder outcomes.

Keywords:
ascertainmentautism spectrum disordercomplex diseasecopy-number variantsmodifiersmulti-hit modelneurodevelopmentalrare variantsvariable expressivity

More Related Videos

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

23.3K
Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.4K

Related Experiment Videos

Last Updated: Jan 15, 2026

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

10.3K
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

23.3K
Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.4K

Area of Science:

  • Genetics
  • Genomic Medicine
  • Developmental Biology

Background:

  • Disease-associated variants often show variable expressivity, suggesting the influence of other genetic factors.
  • Identifying these secondary or modifier variants is crucial for understanding complex genetic disorders.

Purpose of the Study:

  • To investigate the impact of secondary variants on clinical outcomes in individuals with primary genetic variants.
  • To explore the mechanisms by which secondary variants modify disease phenotypes.

Main Methods:

  • Analysis of clinical data from 2,455 individuals with primary variants, including 124 families with the 16p12.1 deletion.
  • Utilized network analysis to understand gene interactions and variant effects.
  • Examined cohorts with other primary variants (e.g., 16p11.2 deletion, CHD8 variants) and control groups.

Main Results:

  • Specific rare and common variant classes, including short tandem repeats, conferred risks for distinct developmental features in the 16p12.1 deletion cohort.
  • Secondary variants demonstrated opposing effects on clinical features depending on the ascertainment cohort.
  • Phenotypic associations varied based on the primary variant context and showed synergistic interactions between primary and secondary variants.

Conclusions:

  • Secondary variants play a significant role in shaping the clinical presentation of genetic disorders.
  • A personalized genomic architecture approach is necessary to dissect complex diseases.
  • This study provides a framework for understanding variant interactions in individualized genetic medicine.