Genome wide SNP analysis in Neurological disorders

神经系统疾病的全基因组 SNP 分析

• 批准号: 7592078
• 负责人: Andrew B Singleton
• 金额: $ 194.36万
• 依托单位: NATIONAL INSTITUTE ON AGING
• 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/7592078
• 关键词: Alleles; Biological Assay; Complex; Computer software; DNA; Data; Funding; Genetic; Genome; Haplotypes; Human Genome; International; Maps; Mining; Nature; Numbers; Parkinson Disease; Publishing; Research Infrastructure; Research Personnel; Risk; Staging; Thinking; Work; cohort; density; disorder risk; genome wide association study; interest; nervous system disorder; neurogenetics; repository; research study

The genetic contribution to a number of neurological disorders is thought to be complex in nature, disease risk being driven by a combination of risk alleles commonly present in the human genome. Recently the completion of stages I and II of the international Haplotype Map project and the availability of high-plex SNP assays has made genome wide assay of common genetic variability a realistic endeavor. We are applying genome wide association analysis using 500,000SNPs to a Parkinsons disease cohort from the NINDS funded neurogenetics repository. We have developed and implemented the necessary hardware and software infrastructure to store and manipulate the 2 billion datapoints associated with these experiments. The data the experiments analysing Parkinsons disease are complete and have recently been published; we are now nearing completion of the second stage of this work, analysing 1000 Parkinsons disease cases and 1000 neurologically normal controls, these data will be posted at dbGAP for mining an augmentation by interested researchers.

人们认为，许多神经系统疾病的遗传因素本质上是复杂的，疾病风险是由人类基因组中常见的风险等位基因的组合驱动的。最近，国际单倍型图谱项目第一阶段和第二阶段的完成以及高复数 SNP 检测的可用性使得常见遗传变异的全基因组检测成为现实。我们正在将使用 500,000 个 SNP 的全基因组关联分析应用于来自 NINDS 资助的神经遗传学存储库的帕金森病队列。我们开发并实施了必要的硬件和软件基础设施来存储和操作与这些实验相关的 20 亿个数据点。分析帕金森病的实验数据已完成并于近期发表；我们现在即将完成这项工作的第二阶段，分析 1000 个帕金森病病例和 1000 个神经系统正常对照，这些数据将发布在 dbGAP 上，供感兴趣的研究人员挖掘增强。