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• W2767220310 abstract "The underlying model of the genetic determinant of a trait is generally not known with certainty a priori. Hence, in genetic association studies, a dominant model might be erroneously modelled as additive, an error investigated previously. We explored this question, for candidate gene studies, by evaluating the sample size required to compensate for the misspecification and improve inference at the analysis stage. Power calculations were carried out with (1) the true dominant model and (2) the incorrect additive model. Empirical power, sample size and effect size were compared between scenarios (1) and (2). In each of the scenarios the estimates were evaluated for a rare (minor allele frequency < 0.01), low frequency (0.01 ≤ minor allele frequency < 0.05) and common (minor allele frequency ≥ 0.05) single nucleotide polymorphism. The results confirm the detrimental effect of the misspecification error on power and effect size for any minor allele frequency. The implications of the error are not negligible; therefore, candidate gene studies should consider the more conservative sample size to compensate for the effect of error. When it is not possible to extend the sample size, methods that help mitigate the impact of the error should be systematically used." @default.
• W2767220310 created "2017-11-17" @default.
• W2767220310 creator A5059384346 @default.
• W2767220310 creator A5066227946 @default.
• W2767220310 date "2017-11-07" @default.
• W2767220310 modified "2023-10-06" @default.
• W2767220310 title "Genetic model misspecification in genetic association studies" @default.
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• W2767220310 doi "https://doi.org/10.1186/s13104-017-2911-3" @default.
• W2767220310 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5678796" @default.
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