Genetic Architecture of Alzheimer’s disease Proteinopathies

这是该领域领先专家之间的合作研究，旨在将我们正在进行的努力扩展到 描述两种AD特异性蛋白病(Aβ和病理性tau)的完整遗传基础 全基因组测序：利用特征良好的大淀粉样蛋白-PET和CSFAβ42/tau 具有痴呆症临床结果的数据集，随后测试已识别的显着影响 下游神经变性标记物的变体，并执行广泛的生物信息学和 功能研究。此应用程序的主要目标是执行和分析WGS 具有良好特征的Aβ和Tau数据以及临床数据的充分支持的大型发现样本 痴呆症的结果以确定与A、β和tau病理相关的假定功能变异。

This is a collaborative study between leading experts in the field to extend our ongoing efforts to delineate the complete genetic basis of the two AD-specific proteinopathies (Aβ and pathologic tau) by whole genome sequencing (WGS) using well-characterized and large amyloid-PET and CSF Aβ42/tau datasets with clinical outcomes of dementia followed by testing the effects of identified significant variants on downstream neurodegeneration markers, and performing extensive bioinformatics and functional studies. The primary objective of this application is to perform and analyze WGS in adequately powered large discovery samples with well-characterized Aβ and tau data along with clinical outcomes of dementia to identify putative functional variants associated with Aβ and tau pathologies.