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

Pedigree Analysis01:35

Pedigree Analysis

Overview
Pedigree Analysis01:35

Pedigree Analysis

Overview
Genome-wide Association Studies-GWAS01:11

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...
Punnett Squares01:00

Punnett Squares

Overview
Punnett Squares01:00

Punnett Squares

Overview
Probability Laws01:49

Probability Laws

Overview

You might also read

Related Articles

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

Sort by
Same author

Longitudinal Blood DNA Methylation Changes During Weight-Loss Intervention and Dementia Progression Risk.

Research square·2026
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

From aging to Alzheimer's disease: concordant brain DNA methylation changes in late life.

Genome medicine·2026
Same author

Identification and functional validation of EPS15L1 as a key driver of triple-negative breast cancer.

NPJ breast cancer·2026
Same author

Blood DNA methylation signature of cognitive reserve moderates the association between CSF tau pathology and memory in prodromal Alzheimer's disease.

Alzheimer's & dementia (New York, N. Y.)·2026
Same author

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

Brain : a journal of neurology·2026

Related Experiment Video

Updated: May 25, 2026

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

Single-marker family-based association analysis conditional on parental information.

Ren-Hua Chung1, Eden R Martin

  • 1John P. Hussman Institute for Human Genomics, Leonard M. Miller School of Medicine, University of Miami, Miami, FL, USA.

Methods in Molecular Biology (Clifton, N.J.)
|February 7, 2012
PubMed
Summary

Family-based association studies utilize flexible tests like the pedigree disequilibrium test (PDT) and association in the presence of linkage (APL) to analyze diverse family structures. These powerful methods aid in genetic discovery by examining linkage and association within families.

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

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
11:54

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Published on: October 20, 2019

Related Experiment Videos

Last Updated: May 25, 2026

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

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

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
11:54

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Published on: October 20, 2019

Area of Science:

  • Genetics
  • Statistical Genetics
  • Human Genetics

Background:

  • Family-based designs are fundamental in genetic association studies.
  • Various family structures, including extended pedigrees and nuclear families (e.g., parent-offspring triads, multiplex families), are used.
  • Flexible statistical tests are needed to accommodate these diverse family structures.

Purpose of the Study:

  • To introduce and compare two flexible family-based association tests: Pedigree Disequilibrium Test (PDT) and Association in the Presence of Linkage (APL).
  • To provide practical recommendations for performing these tests in genetic association analyses.

Main Methods:

  • The Pedigree Disequilibrium Test (PDT) utilizes full genotype data from general pedigrees but requires parental or unaffected sibling genotypes.
  • The Association in the Presence of Linkage (APL) test is limited to nuclear families but can infer missing parental genotypes using identity-by-descent (IBD) parameters.
  • Both tests are designed for association analysis in the presence of genetic linkage.

Main Results:

  • PDT and APL are powerful tools for family-based association studies.
  • They can be employed complementarily to enhance the robustness of genetic association findings.
  • The chapter details the properties and practical application of both PDT and APL.

Conclusions:

  • PDT and APL offer valuable, complementary approaches for family-based genetic association studies.
  • Understanding their specific requirements and capabilities facilitates effective application in genetic research.
  • These methods contribute to robust genetic discovery by leveraging familial data structures.