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

利用遗传异质性实现个体化医疗是当前急需解决的问题之一。在许多情况下，临床实体的定义是复杂的，并且必须开发遗传变体的组合与临床复杂实体之间的关联和因果关系的统计评估。检测遗传变异的实验技术已经在快速发展，因此遗传和表型关联的统计方法也必须跟上变化。该研究项目主要关注所谓“诊断标准”定义的临床表型和罕见变异信息的出现，并开发了统计方法，并定义了开发此类方法之前需要解决的基本问题。

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.