Impact of Genotyping Errors on Haplotype-Based Association Methods
Author Information
Author(s): Vivien Marquard, Lars Beckmann, Iris M. Heid, Claudia Lamina, Jenny Chang-Claude
Primary Institution: German Cancer Research Center
Hypothesis
What is the influence of genotyping errors on the type I error rate and power of haplotype-based association methods?
Conclusion
Genotyping error rates of 0.2% do not significantly affect the type I error rate or power of the tested association methods.
Supporting Evidence
- The type I error rate remained at nominal levels with low genotyping error rates.
- High differential genotyping error rates inflated the type I error rate significantly.
- Empirical power was high at low error rates but decreased with higher error rates.
Takeaway
This study looked at how mistakes in genetic testing can change the results of studies that try to find links between genes and diseases. It found that small mistakes don't really change the results.
Methodology
The study used simulated case-control data with 1000 replications, each containing 500 cases and 500 controls, to analyze the effects of genotyping errors on various association tests.
Potential Biases
Potential bias due to differential genotyping errors affecting the type I error rate.
Limitations
The study primarily focused on specific error rates and may not generalize to all types of genotyping errors.
Participant Demographics
The study involved simulated data rather than real participants.
Statistical Information
P-Value
0.05
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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