Statistical analysis for haplotype-based matched case-control studies
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1Department of Statistics and Finance, University of Science and Technology of China, 96 Jinzhai Road, Hefei, Anhui 230026, China.
Abstract:
Using unphased genotype data, we studied statistical inference for association between a disease and a haplotype in matched case-control studies. Statistical inference for haplotype data is complicated due to ambiguity of genotype phases. An estimating equation-based method is developed for estimating odds ratios and testing disease-haplotype association. The method potentially can also be applied to testing haplotype-environment interaction. Simulation studies show that the proposed method has good performance. The performance of the method in the presence of departures from Hardy-Weinberg equilibrium is also studied.
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