Statistical tools for phenotype definition in genetic studies

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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: