Statistical tools for phenotype definition in genetic studies

遗传研究中表型定义的统计工具

• 批准号: 327067-2010
• 负责人: Labbe, Aurélie
• 金额: $ 0.87万
• 依托单位: McGill University
• 依托单位国家: 加拿大
• 项目类别: Discovery Grants Program - Individual
• 财政年份: 2013
• 资助国家: 加拿大
• 起止时间: 2013-01-01 至 2014-12-31
• 项目状态: 已结题
• 来源: https://www.nserc-crsng.gc.ca/ase-oro/Details-Detailles_eng.asp?id=526808
• 关键词: Statistical; tools; phenotype; definition; genetic

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:

在遗传学研究中，确定表型是建立可靠的基因型-表型关系的必要前提。为了鉴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：i）高度遗传; ii）遗传同质; iii）联合收割机结合收集的与疾病相关的各种项目的信息。该提案的目标是建立一套统计工具，用于在遗传研究中定义表型，当收集患者的大量项目和/或当遗传相关疾病定义不清楚时，例如精神疾病。在以往工作的基础上，我将努力实现以下三个目标：