Development of statistical analysis method for genetic epidemiology of complex clinical phenotypes

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It is one of urgent issues to realize personalized medicine based on the utilization of genetic heterogeneity. The definitions of clinical entities are complex in many cases and statistical evaluation of association and causation between combination of genetic variants and the clinical complex entities have to be developed. The experimental technology for detection of genetic variants has been in rapid progress, therefore statistical methods for genetic and phenotypic association also have to catch up the change. This research project mainly focused on the clinical phenotypes defined with so-called "diagnosis criteria" and on the emergence of rare variants information and developed statistical methods and also defined the fundamental problems to be solved before developing such methods.