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Updated: Jul 5, 2026

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Disease associations and family-based tests
Warren J Ewens1, Richard S Spielman, Norman L Kaplan
1University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Current Protocols in Human Genetics
|April 23, 2008
Summary
Family-based association studies, like the Transmission Disequilibrium Test (TDT), are crucial for identifying disease risk genes. This unit details TDT and the Sib TDT (S-TDT) for complex diseases, even without parental data.
Area of Science:
- Genetics
- Biostatistics
- Epidemiology
Background:
- Family-based association studies are vital for identifying genes linked to complex diseases.
- Traditional case-control designs face challenges in genetic association studies.
- Genetic polymorphisms play a role in disease etiology.
Purpose of the Study:
- To describe statistical techniques for family-based association studies.
- To introduce the Transmission Disequilibrium Test (TDT) and its applications.
- To present the Sib TDT (S-TDT) method for sibships lacking parental data.
Main Methods:
- Detailed explanation of statistical methods for family-based association studies.
- Application of the Transmission Disequilibrium Test (TDT).
- Introduction of the Sib TDT (S-TDT) for analyzing sibships without parental genetic information.
Main Results:
- The TDT is a powerful tool for genetic association studies.
- The S-TDT extends TDT principles to sibships lacking parental data.
- Family-based designs mitigate issues common in case-control genetic studies.
Conclusions:
- Family-based association studies, including TDT and S-TDT, are essential for genetic research.
- The S-TDT offers a valuable approach for late-onset diseases.
- These methods enhance the identification of genes contributing to complex diseases.
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