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

90.1K
Overview
90.1K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

15.9K
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...
15.9K
Punnett Squares01:00

Punnett Squares

126.3K
Overview
126.3K
Probability Laws01:49

Probability Laws

44.6K
Overview
44.6K
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

1.2K
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...
1.2K
Multiple Allele Traits01:49

Multiple Allele Traits

38.3K
The Concept of Multiple Allelism
38.3K

You might also read

Related Articles

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

Sort by
Same author

Reduced penetrance in genetic ALS/FTD spectrum disorders: implications for genetic counseling, predictive testing and treatment.

Amyotrophic lateral sclerosis & frontotemporal degeneration·2026
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

A Common <i>CD36</i> Variant and the Genetic Landscape of Dilated Cardiomyopathy in Individuals of African Ancestry.

medRxiv : the preprint server for health sciences·2026
Same author

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

NPJ breast cancer·2026

Related Experiment Video

Updated: Feb 21, 2026

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

23.4K

Single Marker Family-Based Association Analysis Conditional on Parental Information.

Ren-Hua Chung1, Daniel D Kinnamon2, Eden R Martin3

  • 1Division of Biostatistics and Bioinformatics, Institute of Population Health Sciences, National Health Research Institutes, Newyork, Taiwan.

Methods in Molecular Biology (Clifton, N.J.)
|October 6, 2017
PubMed
Summary

Family-based association studies utilize flexible tests like the pedigree disequilibrium test (PDT) and association in the presence of linkage (APL) test. These methods analyze various family structures to identify genetic associations with diseases.

Keywords:
EM algorithmExtended pedigreeFamily-based association testGenome-wide associationLinkage disequilibriumNontransmission statisticsNuclear familyParallelizationParental informationPopulation stratificationRare variantsTransmission statistics

More Related Videos

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

9.8K
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

10.8K

Related Experiment Videos

Last Updated: Feb 21, 2026

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

23.4K
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

9.8K
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

10.8K

Area of Science:

  • Genetics
  • Statistical Genetics
  • Human Genetics

Background:

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

Purpose of the Study:

  • To introduce and compare the Pedigree Disequilibrium Test (PDT) and the Association in the Presence of Linkage (APL) test.
  • To highlight the utility of these tests in family-based association studies.
  • To provide practical recommendations for implementing PDT and APL tests.

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 designed for nuclear families and can infer missing parental genotypes using identity-by-descent (IBD) parameters.
  • Comparison of the properties and applications of PDT and APL tests.

Main Results:

  • Both PDT and APL are powerful association tests when linkage is present.
  • PDT accommodates complex pedigrees but has specific genotypic data requirements.
  • APL is suitable for nuclear families and effectively handles missing parental genotypes.

Conclusions:

  • PDT and APL serve as complementary tools for robust family-based association analysis.
  • The choice between PDT and APL depends on the family structure and available genotype data.
  • Understanding the properties of these tests enhances their practical application in genetic research.