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

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...

Behavioral Genetics and Its Designs

Behavioral Genetics and Its Designs

Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...

Pedigree Analysis

Pedigree Analysis

You might also read

Related Articles

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

Sort by

Same author

Genome wide association study meta-analysis of neuropathologic lesions of Alzheimer's disease and related dementias in a multi-site autopsy cohort.

PLoS genetics·2026

Same author

Functionally informed annotation influences pathway-specific polygenic risk and disease inference in Alzheimer's disease.

medRxiv : the preprint server for health sciences·2026

Same author

Comprehensive analysis of <i>de novo</i> variants across 2,497 orofacial cleft trios reveals novel genetic drivers of disease.

medRxiv : the preprint server for health sciences·2026

Same author

Estimation of direct and indirect polygenic effects and gene-environment interactions using polygenic scores in case-parent trio studies.

Nature genetics·2026

Same author

Multi-ancestry transcriptome-wide association study reveals shared and population-specific genetic effects in Alzheimer disease.

American journal of human genetics·2026

Same author

Sex-specific genetic drivers of memory, executive functioning and language in older adults.

Brain : a journal of neurology·2026

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

Search research articles

Related Experiment Video

Updated: Feb 21, 2026

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

Detecting Familial Aggregation.

Adam C Naj^1,2,3, Terri H Beaty⁴

¹Department of Biostatistics, Epidemiology, and Informatics, University of Pennsylvania Perelman School of Medicine, 229 Blockley Hall, 423 Guardian Drive, Philadelphia, PA, 19104, USA. adamnaj@mail.med.upenn.edu.

Methods in Molecular Biology (Clifton, N.J.)

|October 6, 2017

Summary

This summary is machine-generated.

Familial aggregation studies assess if diseases cluster in families, indicating potential heritability. This foundational step in genetic epidemiology helps justify further research into specific genetic causes of diseases and traits.

Keywords:

Cochran–Mantel–Haenzel (CMH)Conditional logistic regression Familial case–control Familial gene–environment interaction Familial recurrence risk Familial relative risk Family history Family history score Generalized estimating equations (GEE)Logistic regression Odds ratio Standardized incidence ratio (SIR)Standardized mortality ratio (SMR)

More Related Videos

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

Generalized Psychophysiological Interaction PPI Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease

Generalized Psychophysiological Interaction PPI Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease

Published on: November 14, 2017

Related Experiment Videos

Last Updated: Feb 21, 2026

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

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

Generalized Psychophysiological Interaction PPI Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease

Generalized Psychophysiological Interaction PPI Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease

Published on: November 14, 2017

Area of Science:

Genetic Epidemiology
Statistical Genetics

Background:

Genetic epidemiology and statistical genetics investigate genomic variation's role in disease risk and trait variation.
Key questions include disease familial aggregation, transmission models, marker cosegregation, and variant frequency differences between affected and unaffected individuals.

Purpose of the Study:

To focus on statistical methods for analyzing familial aggregation of qualitative and quantitative phenotypes.
To provide foundational understanding and analytical tools for assessing trait heritability.

Main Methods:

Familial aggregation studies examine disease clustering within families compared to the general population.
Methods include correlation studies, segregation analysis, linkage analysis, and association studies for both qualitative and quantitative traits.

Main Results:

Familial aggregation studies serve as a crucial first step to establish potential heritability.
Evidence of familial clustering justifies pursuing studies to identify specific genetic contributors.

Conclusions:

Assessing familial aggregation is essential before investigating genotype-phenotype correlations.
This approach helps determine if diseases or traits warrant further statistical genetic investigation for specific genetic causes.