Estimation and partitioning of the still-missing heritability for complex disease

复杂疾病仍然缺失的遗传力的估计和划分

• 批准号: nhmrc : 1050218
• 负责人: Prof Jian Yang
• 金额: $ 19.46万
• 依托单位: The University of Queensland
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2013
• 资助国家: 澳大利亚
• 起止时间: 2013-01-01 至 2015-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/estimation-partitioning-still-complex-disease/112144
• 关键词: Estimation; partitioning; still; missing; heritability

We have pioneered the use of multi-marker statistical genetic methods in human genetics to elucidate the genetic architecture of complex traits, including common diseases. We have shown that between a third and a half of additive genetic variation is captured by common genetic variants, leaving two-thirds to a half truly ‘missing’. In this proposal we will test our hypothesis that the still-missing heritability is due to low frequency causal variants. Applications of genomic medicine require this fundamental knowledge to progress fully.

我们率先在人类遗传学中使用多标记统计遗传方法来阐明复杂性状的遗传结构，包括常见疾病。我们已经证明，三分之一到一半的加性遗传变异被常见的遗传变异所捕获，而三分之二到一半的遗传变异真正“缺失”。在本提案中，我们将检验我们的假设，即仍然缺失的遗传力是由于低频因果变异造成的。基因组医学的应用需要这些基础知识才能取得全面进展。