Statistical tools for phenotype definition in genetic studies

表型定义是在遗传学研究中建立可靠的基因-表型关系的必要前提。为了确定复杂疾病的候选感兴趣区域，“明确定义的”表型应具有以下特征：1)高度可遗传；2)遗传同质性；3)结合收集的与疾病相关的各种项目的信息。这项提议的目标是建立一套统计工具，用于在收集了大量关于患者的项目和/或当遗传相关疾病定义不明确时，在基因研究中定义表型，例如精神障碍。在前人工作的基础上，我将着力抓好以下三个目标：

Phenotype definition is a necessary prerequisite to establish reliable genotype-phenotype relationships in genetic studies. In order to identify candidate regions of interest for complex diseases, a "well defined" phenotype should have the following characteristics: i) be highly heritable; ii) be genetically homogeneous; iii) combine the information collected on a variety of items related to the disease. The goal of this proposal is to establish a set of statistical tools for defining the phenotype in genetic studies, when a large number of items are collected on the patients and/or when a genetically relevant disease definition is unclear, as is the case in psychiatric disorders for example. Based on previous work, I will try to focus on the three following objectives: