Statistical population genetics and genetic epidemiology

统计群体遗传学和遗传流行病学

• 批准号: 7174899
• 负责人: dmitri v zaykin
• 金额: --
• 依托单位: NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/7174899
• 关键词: biotechnology; computer simulation; gene environment interaction; gene expression; gene interaction; genetic disorder; genetic disorder diagnosis; genetic polymorphism; genetic susceptibility; linkage disequilibriums; linkage mapping; mathematical model; pharmacogenetics; phenotype; population genetics; statistics /biometry

The purpose of this research is to study statistical genetics problems in the area of mapping human trait variation. We have examined the multiple testing performance of single-locus and multi-locus mapping techniques such as the analysis of association of haplotypes with disease susceptibility and adverse reactions to drugs. Statistical properties of a common data mining technique (recursive partitioning) have been investigated. We studied chances of discovering genuine associations by employing statistical distributions of ranks of true associations. We considered multiplicity issues in the context of large scale mapping experiments, such as whole genome association scans. Our design incorporated dependencies between test statistics evaluated at different genetic locations due to linkage disequilibrium and haplotype blocks.

这项研究的目的是研究人类性状变异图谱领域中的统计遗传学问题。我们已经检验了单基因座和多基因座作图技术的多重测试性能，例如单倍型与疾病易感性和药物不良反应的关联分析。研究了一种常见的数据挖掘技术(递归划分)的统计特性。我们通过使用真实关联等级的统计分布来研究发现真实关联的机会。我们在大规模测绘实验的背景下考虑了多样性问题，例如全基因组关联扫描。我们的设计结合了由于连锁不平衡和单倍型块而在不同遗传位置评估的测试统计之间的相关性。