The genetic models are greatly important in the analysis of genetic epidemiologic studies and many of the studies are conducted using the trend test under the additive model. However, for many complex diseases and tra...The genetic models are greatly important in the analysis of genetic epidemiologic studies and many of the studies are conducted using the trend test under the additive model. However, for many complex diseases and traits, the underlying genetic model for a genetic locus is usually uncertain. So a robust test free of genetic model is appropriate. In this paper, the authors propose a model-embedded trend test by incorporating Hardy-Weinberg equilibrium information and obtain the explicit formula to calculate its statistical significance. Extensive simulation studies show the proposed test is more robust than the existing procedures. Finally, a real application is further analyzed to show the performance of the proposed test.展开更多
The discovery of the Hardy-Weinberg principle marked the beginning of the field of population genetics.Over the past hundred years,it has provided a starting point for many population genetic investigations.In this re...The discovery of the Hardy-Weinberg principle marked the beginning of the field of population genetics.Over the past hundred years,it has provided a starting point for many population genetic investigations.In this review,the Hardy-Weinberg principle,its statistical testing,and several of its applications in various modern population genetic research areas,including allelic variability and selection in the human leukocyte antigen region,microsatellite genotyping error detection,and accuracy of haplotype estimation,are discussed.展开更多
基金partial supported by Special National Key Research and Development Plan under Grant No.2016YFD0400206the Breakthrough Project of Strategic Priority Program of Chinese Academy of Sciences under Grant No.XDB13040600+2 种基金Youth Innovation Promotion Association of Chinese Academy of Sciencethe National Science Foundation of China under Grant Nos.11371353,11661080,61134013Special Fund of the University of Chinese Academy of Sciences for Scientific Research Cooperation
文摘The genetic models are greatly important in the analysis of genetic epidemiologic studies and many of the studies are conducted using the trend test under the additive model. However, for many complex diseases and traits, the underlying genetic model for a genetic locus is usually uncertain. So a robust test free of genetic model is appropriate. In this paper, the authors propose a model-embedded trend test by incorporating Hardy-Weinberg equilibrium information and obtain the explicit formula to calculate its statistical significance. Extensive simulation studies show the proposed test is more robust than the existing procedures. Finally, a real application is further analyzed to show the performance of the proposed test.
文摘The discovery of the Hardy-Weinberg principle marked the beginning of the field of population genetics.Over the past hundred years,it has provided a starting point for many population genetic investigations.In this review,the Hardy-Weinberg principle,its statistical testing,and several of its applications in various modern population genetic research areas,including allelic variability and selection in the human leukocyte antigen region,microsatellite genotyping error detection,and accuracy of haplotype estimation,are discussed.
