Core C: Adjudication and Phenotype Harmonization

核心 C：裁决和表型协调

• 批准号: 10333057
• 负责人: MICHAEL L CUCCARO
• 金额: $ 39.17万
• 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/10333057
• 关键词: African; Agreement; Algorithms; Alzheimer' s Disease; Clinical; Clinical Data; Communities; Data; Dementia; Diagnosis; Ensure; Genetic; Genetic Variation; Goals; Manuals; Metadata; Methods; Mission; Outcome; Participant; Phenotype; Procedures; Research; Research Personnel; Resources; Site; Testing; Underrepresented Populations; Work; adjudicate; adjudication; case control; clinical diagnosis; cohort; data dictionary; data harmonization; gene discovery; interest; operation; phenotypic data; recruit

CORE C: PROJECT SUMMARY/ABSTRACT The overall goal of the Adjudication and Phenotype Harmonization Core (Core C) is to generate the high quality, analysis ready, clinical diagnoses and harmonized phenotypes. needed to develop the READD-ADSP resource. Developing this resource is in line with NIA's mission to ensure that Alzheimer's disease gene discovery represents all groups including those that have been traditionally underrepresented. Further, the clinical deliverables from Core C will be invaluable to qualified investigators who access the READD-ADSP resource. To produce these clinical deliverables, Core C will adjudicate 13,000 participants (cases/controls) from US sites (n=8,000) and AfDC sites (n=5,000) and harmonize multi-domain phenotype data from the US and African cohorts. The adjudication and harmonization objectives will be accomplished via two aims: (1) Acquisition and processing of clinical data (e.g., data dictionaries and operation manuals) and metadata for adjudication and harmonization; (2) Adjudication and harmonization of clinical data from US and AfDC sites and delivery clinical diagnoses to Core E for distribution to Projects 1 & 2 and both clinical diagnoses and harmonized data to NIAGADS for distribution to the ADSP-Phenotype Harmonization Consortium and the broader scientific community. Ultimately, the value of the READD-ADSP resource resides in its potential to expand understanding of AD genetics in underrepresented groups with implications for therapies that integrate personalized information.

核心C：项目总结/摘要 裁定和表型协调核心（核心C）的总体目标是产生高 质量、分析就绪、临床诊断和协调表型。需要开发READD-ADSP resource.开发这种资源符合NIA的使命，即确保阿尔茨海默病基因 发现代表了所有群体，包括那些传统上代表性不足的群体。此夕h 核心C的临床可交付成果对于访问READD-ADSP的合格研究者来说是无价的 resource.为了产生这些临床可交付成果，核心C将对来自以下研究的13，000名参与者（病例/对照）进行裁定： US研究中心（n= 8，000）和AfDC研究中心（n= 5，000），并协调来自US和 非洲人。裁决和协调目标将通过两个目标实现：（1）获取 以及临床数据的处理（例如，数据字典和操作手册）和元数据， 协调;（2）美国和AfDC研究中心临床数据的裁定和协调以及临床交付 将临床诊断和统一数据分发到核心E，以便分发到项目1和2， NIAGADS分发给ADSP-Phenotype Harmonization Consortium和更广泛的科学 社区最终，READD-ADSP资源的价值在于其扩展理解的潜力 AD遗传学在代表性不足的群体中的作用， 信息.