Core C: Adjudication and Phenotype Harmonization

核心 C：裁决和表型协调

• 批准号: 10654534
• 负责人: MICHAEL L CUCCARO
• 金额: $ 41.26万
• 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/10654534
• 关键词: African; Agreement; Algorithms; Alzheimer' s Disease; Clinical; Clinical Data; Communities; Data; Dementia; Diagnosis; Genetic; Genetic Variation; Goals; Manuals; Metadata; Methods; Mission; Outcome; Participant; Phenotype; Procedures; Qualifying; Research; Research Personnel; Resources; Site; Testing; Underrepresented Populations; Work; adjudication; 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：项目摘要/摘要 裁决和表型协调核心（核心 C）的总体目标是产生高 质量、分析准备、临床诊断和统一的表型。开发 READD-ADSP 所需 资源。开发该资源符合 NIA 的使命，即确保阿尔茨海默病基因 发现代表所有群体，包括传统上代表性不足的群体。此外， 核心 C 的临床成果对于访问 READD-ADSP 的合格研究人员来说非常宝贵 资源。为了产生这些临床成果，核心 C 将裁定来自以下国家的 13,000 名参与者（病例/对照）： 美国站点 (n=8,000) 和 AfDC 站点 (n=5,000) 并协调来自美国和非洲的多域表型数据 非洲队列。裁决和协调目标将通过两个目标来实现：(1) 获取 临床数据（例如数据字典和操作手册）和元数据的处理，以供裁决和 协调一致； (2) 美国和 AfDC 站点的临床数据的裁决和协调以及交付临床 诊断到核心 E，以便分发到项目 1 和 2，以及临床诊断和统一数据 NIAGADS 分发给 ADSP-表型协调联盟和更广泛的科学界 社区。最终，READD-ADSP 资源的价值在于其扩展理解的潜力 代表性不足的群体中 AD 遗传学的研究对整合个性化治疗的影响 信息。