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Core C: Adjudication and Phenotype Harmonization

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
依托单位国家:
美国
项目类别:
财政年份:
2022
资助国家:
美国
项目状态:
未结题
起止时间:
2022-07-01 至 2027-06-30

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中文摘要
翻译
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、临床诊断和协调的表型。需要开发ReadD-ADSP 资源。开发这一资源符合NIA的使命,即确保阿尔茨海默病基因 Discovery代表所有群体,包括那些传统上代表不足的群体。此外, Core C的临床交付成果对于访问ReadD-ADSP的合格研究人员来说将是无价的 资源。为了产生这些临床交付成果,核心C将从以下方面裁决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 非洲军团。裁决和协调目标将通过两个目标实现:(1)购置 以及临床数据(例如,数据词典和操作手册)和元数据的处理 协调;(2)判定和协调来自美国和AFDC站点的临床数据以及交付临床数据 将诊断分发到核心E以分发给项目1和2,并将临床诊断和协调数据分发到 分发给ADSP-表型协调联盟和更广泛的科学领域的NIAGADS 社区。归根结底,ReadD-ADSP资源的价值在于其扩大理解的潜力 AD遗传学在代表性不足的人群中的研究及其对整合个性化治疗的影响 信息。
英文摘要
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.
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Core C: Adjudication and Phenotype Harmonization
Alzheimer's Disease Sequencing Project Phenotype Harmonization Consortium
Alzheimer's Disease Sequencing Project Phenotype Harmonization Consortium
Additional Sequencing for the Alzheimer's Disease Sequencing Project (ADSP)
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