Performance of MAX Test and Degree of Dominance Index in Predicting the Mode of Inheritance

Zintzaras Elias and Santos Mauro
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Zintzaras Elias: University of Thessaly School of Medicine and Tufts University School of Medicine
Santos Mauro: Universitat Autònoma de Barcelona

Statistical Applications in Genetics and Molecular Biology, 2012, vol. 11, issue 4, 17

Abstract: We evaluate power performance to detect the correct mode of inheritance in gene-disease associations of two different approaches: the MAX test and the degree of dominance index or h-index. The MAX test is a special case of the conditional independence tests that simultaneously test for association and select the most likely genetic model based on a three-dimensional normal distribution. The h-index is based on the philosophy of using orthogonal contrasts to infer the mode of inheritance quantitatively. A population genetic model is developed where the real mode of inheritance is known a priori and power performance can be accurately determined. The simulations showed that none of the two approaches generally outperforms the other, nor each of them provides a panacea to estimate efficiently the mode of inheritance in all parameter space. However, the simultaneous application of both approaches can provide insights in determining the underlying mode of inheritance.

Keywords: genetic association; mode of inheritance; degree of dominance; h-index; MAX test (search for similar items in EconPapers)
Date: 2012
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DOI: 10.1515/1544-6115.1804

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