Long-read DNA sequencing of Alzheimers Disease and Related Dementias cases

阿尔茨海默病和相关痴呆病例的长读长 DNA 测序

• 批准号: 10470617
• 负责人: Andrew Singleton
• 金额: $ 720.99万
• 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/10470617
• 关键词: Algorithms; Alzheimer' s disease related dementia; Alzheimer' s disease risk; Area; Automobile Driving; Bioinformatics; Blood; Brain; Cells; Clinical; Communities; DNA; DNA sequencing; Data; Data Analyses; Data Set; Dideoxy Chain Termination DNA Sequencing; Disease; Elements; Epigenetic Process; Frontotemporal Dementia; GC Rich Sequence; Genetic; Genome; Genotype; Infrastructure; Length; Lewy Body Dementia; Nucleotides; Pathologic; Patients; Phase; Population Heterogeneity; Process; Protocols documentation; Repetitive Sequence; Sampling; Structure; Technology; Underrepresented Populations; Variant; base; brain tissue; cloud based; digital; experimental study; genetic architecture; genetic variant; genome sequencing; genomic data; insertion/deletion mutation; interest; large datasets; nanopore; sequencing platform; sharing platform; structural genomics; telomere; whole genome

We have established a blood-based DNA isolation protocol, and we have nearly completed the optimization of our brain tissue DNA isolation protocol. We have begun to acquire blood and brain samples of interest with significant WGS, clinical, pathological, or omics data available. We have prioritized samples from underrepresented populations to better understand genetics of diverse populations. We have identified platforms for digital storage and hosting of our long-read sequencing datasets. We will disseminate all protocols on a widely-used and easily-accessible genomic data-sharing platform. We will also establish and optimize pipelines and protocols for storing and processing long-read data.

我们已经建立了一个基于血液的DNA分离方案，我们几乎完成了我们的脑组织DNA分离方案的优化。我们已经开始获取具有重要WGS、临床、病理或组学数据的感兴趣的血液和脑样本。我们优先考虑来自代表性不足的人群的样本，以更好地了解不同人群的遗传学。我们已经确定了用于数字存储和托管长读序测序数据集的平台。我们将在一个广泛使用和易于访问的基因组数据共享平台上传播所有协议。我们还将建立和优化用于存储和处理长读数据的管道和协议。