Core D: Genomics and Biomarker Core

核心 D：基因组学和生物标志物核心

• 批准号: 10654537
• 负责人: ANTHONY JOHN GRISWOLD
• 金额: $ 80.1万
• 依托单位: UNIVERSITY OF MIAMI SCHOOL OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-07-01 至 2027-06-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10654537
• 关键词: African; African American; Alzheimer' s Disease; Alzheimer’s disease biomarker; Basic Science; Biocompatible Materials; Bioinformatics; Biological Markers; Blood; Communities; Cuban; DNA; Data; Data Analyses; Data Set; Dementia; Ensure; Freezing; Future; Gene Expression Profiling; Genetic Variation; Genome; Genomics; Genotype; Goals; Hispanic; Individual; Latinx; Light; Molecular Profiling; Nigerian; Plasma; Play; Process; Protocols documentation; Quality Control; RNA; Research; Resources; Role; SNP array; Sampling; Shipping; Site; Standardization; Technology; Translational Research; Tube; Whole Blood; Work; adjudication; analytical method; biobank; bioinformatics pipeline; cohort; data dissemination; data management; data sharing; data standards; experience; genome-wide; human genomics; instrumentation; neurofilament; phenotypic data; recruit; sample collection; screening; tau Proteins

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.

核心D：项目总结 基因组学和生物标志物核心的目标是促进不同的祖先阿尔茨海默病（AD） 在创建基因分型和生物标志物数据的同时，通过协调生物样本接收、储存和跟踪进行队列研究 用于下游分析。这个核心利用了结合专业知识，经验和尖端技术， 技术和分析方法在UM和CWRU。为了实现这些目标，核心已经建立了 三个具体目标，与其他核心和两个项目相互作用并支持它们。这些具体目标是：1） 准备、储存、跟踪和分配来自新的DNA、血浆和PAXGEne RNA管 确定的队列（N =来自非洲研究中心的5，000人和来自美国研究中心的8，000人）; 2)为所有采集的样本和血浆生成全基因组SNP阵列数据并进行质量控制 AD生物标志物包括总Tau、A40和A42、磷酸化-Tau181和神经丝轻链， 900人（300名尼日利亚人，300名非洲裔美国人和300名古巴人）; 3）协调分析管道， 预先存在的基因分型和生物标志物数据与新生成的基因分型和生物标志物数据， 通过核心E向各项目和NIAGADS传播。在实现这些目标的过程中，这一核心发挥着至关重要的作用。 在连接确认和数据管理核心方面发挥作用，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，冷冻血浆， PAXGene RNA管将作为未来AD基础和转化研究的常设资源。