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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...

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Related Experiment Video

Updated: Jul 10, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Using information from both parents when testing for association between marker and disease loci

J C Whittaker¹, A P Morris, R N Curnow

¹Department of Applied Statistics, University of Reading, UK. j.c.whittaker@reading.ac.uk

Genetic Epidemiology

|April 29, 1998

Summary

The transmission/disequilibrium test (TDT) can now analyze multi-allelic markers more powerfully. This new method allows simultaneous analysis of both parents, simplifying genetic studies.

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Area of Science:

Genetics
Statistical Genetics
Population Genetics

Background:

The transmission/disequilibrium test (TDT) is a powerful tool for linkage analysis and association studies.
Existing extensions of the TDT for multi-allelic markers often require separate analyses for male and female parents.
This separation reduces statistical power and complicates the interpretation of results due to non-independent parental transmission patterns.

Purpose of the Study:

To demonstrate that the non-independence of parental transmission patterns is asymptotically irrelevant for the allelic TDT.
To enable simultaneous analysis of data from both male and female parents in TDT studies.
To enhance the power and simplify the interpretation of TDT for multi-allelic markers.

Main Methods:

Utilized the allelic transmission/disequilibrium test (TDT) as proposed by Bickeböller and Clerget-Darpoux (1995).
Theoretically demonstrated the asymptotic irrelevance of non-independent parental transmission patterns.
Applied the method to analyze multi-allelic marker data from both parents simultaneously.

Main Results:

The allelic TDT allows for the simultaneous analysis of data from both parents.
The non-independence of parental transmission patterns does not asymptotically affect the test results.
This approach enhances the power and simplifies the interpretation of TDT for multi-allelic markers.

Conclusions:

The allelic TDT provides a unified and more powerful approach for analyzing multi-allelic markers.
Simultaneous analysis of both parents is feasible and advantageous, overcoming limitations of previous methods.
This advancement simplifies genetic association studies and linkage analysis.