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中文摘要
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核心D:项目总结 基因组学和生物标记物核心的目标是促成一种多样化的祖先阿尔茨海默病(AD)。 通过在创建基因分型和生物标记物数据的同时协调生物样品的接收、存储和跟踪来进行队列 用于下游分析。这一核心利用了专业知识、经验和尖端技术的结合 UM和CWRU的技术和分析方法。为了实现这些目标,核心已经建立了 与其他核心和两个项目互动和支持的三个具体目标。这些具体目标是:1) 准备、存储、跟踪和分配新的高质量DNA、血浆和PAXGEne RNA管 已确定的队列(N=来自非洲站点的5,000人和来自美国站点的8,000人); 2)生成并对所有收集的样本和血浆的全基因组SNP阵列数据进行质量控制 AD生物标志物包括总Tau、A40和A42、磷酸Tau181和神经丝光 900人(300名尼日利亚人、300名非裔美国人和300名古巴人);以及3)协调分析管道与 预先存在的基因分型和生物标记物数据与新生成的 通过核心E向项目和国家发展援助方案进行传播。在实现这些目标的过程中,这个核心起着至关重要的作用 在连接查明和数据管理核心方面的作用,并为项目和 更广泛的AD研究社区。此外,生物标本包括提取的DNA,冰冻血浆, PAX基因RNA管将作为未来AD基础和翻译研究的常备资源。
英文摘要
CORE D: PROJECT SUMMARY The Genomics and Biomarker Core has as its goal to contribute to a diverse ancestral Alzheimer disease (AD) cohort by coordinating biospecimen receipt, storage, and tracking while creating genotyping and biomarker data for downstream analyses. This core utilizes the combined specialized expertise, experience, and cutting-edge technological and analytical methods at UM and CWRU. To accomplish these goals, the core has established three specific aims that interact with and support other cores and both projects. These specific aims are: 1) Prepare, store, track, and allocate high quality DNA, plasma, and PAXGEne RNA tubes from the newly ascertained cohorts (N=5,000 individuals from African sites and 8,000 individuals ascertained from US sites); 2) Generate and perform quality control on genome-wide SNP array data for all collected samples and plasma AD biomarkers including total Tau, A 40, and A 42, phospho-Tau181, and Neurofilament light on a subset of 900 individuals (300 Nigerian, 300 African American, and 300 Cuban); and 3) harmonize analytical pipelines with pre-existing genotyping and biomarker data with newly generated genotyping and biomarker data for dissemination through Core E to the projects and NIAGADS. In completing these aims this core plays a critical role in bridging the ascertainment and data management cores and generates data for both projects and the broader AD research community. Moreover, the biospecimens including extracted DNA, frozen plasma, PAXGene RNA tubes will serve as a standing resource for future AD basic and translational research.
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Core D: Genomics and Biomarker Core
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