Core B - Data Management, Harmonization, and Data Transfer Core

核心B(数据管理、协调和信息传输)是作为RFA-AG-16001的一部分 NIA阿尔茨海默病遗传学和基因组学协调中心(CGAD)的。核心B的主要功能 目的是促进对阿尔茨海默氏症复制阶段和延长复制阶段的分析 疾病序列计划(ADSP)，通过协调所有阿尔茨海默病(AD)相关基因和 表型数据。复制阶段将使用ADSP数据，而扩展复制阶段将使用非 ADSP数据(核心A，表3-5)和两个阶段的数据将由核心B协调。协调将 使用由ADSP开发并由Core C重新评估的协议。Core B将生成带完整注释的 可供分析的文件。这些文件/数据将分发到核心C和所有ADSP/RFA-AG16002 UO1和AD 遗传学研究人员。核心C将与其他部门合作开发和实施分析计划 ADSP/RFA-AG16002 UO1调查员(另见整体部分)。核心B将提供高- 适用于计算密集型任务的性能计算基础架构。核心B将管理所有CGAD 表型、基因型、注释和分析结果，并将数据/文件分发到所有ADSP/RFA-AG16002 阿尔茨海默病数据存储站点的调查人员、基因类型和表型(DBGaP)和NIA遗传学 (NIAGADS)核心B的具体任务是：1)捕获和维护包括序列数据在内的所有相关数据， ADSP发现阶段复制的基因类型、表型、分析结果和其他相关数据 阶段和非ADSP来源；2)利用协作性协议协调基因和表型数据 使用核心C；3)使用以下方法为所有基因组范围的SNV阵列数据分配单核苷酸变体(SNV 单倍型参考联盟(HRC)参考面板和ADSP WES/WGS的AD特定变体 数据；4)调用ADSP复制和非ADSP数据的结构变量(SVS)；5)以电子批注形式提供 使用基因组广域注释资源(GWAR)和当前的ADSP协议进行分析的文件；6) 通过CGAD/ADSP向ADSP、RFA-AG-16002 U01和一般研究社区传递信息 网站、关系数据库和NIA批准的数据存储库，包括DBGaP和NIAGADS；7)提供 基础设施和对CGAD计算和分析的支持。

Core B (Data Management, Harmonization, and Information Transfer) is mandated by RFA-AG-16001 as part of the NIA Coordinating Center for Genetics and Genomics of Alzheimer's Disease (CGAD). Core B's primary goal is to facilitate the analysis of the Replication Phase and Extended Replication Phase of the Alzheimer's Disease Sequence Project (ADSP) by harmonizing all Alzheimer's disease (AD) relevant genotype and phenotype data. The Replication Phase will use ADSP data and the Extended Replication Phase will use non- ADSP data (Core A, Tables 3-5), and data for both phases will be harmonized by Core B. Harmonization will use protocols developed by the ADSP and re-evaluated by Core C. Core B will produce fully annotated analysis-ready files. These files/data will be distributed to Core C and all ADSP/RFA-AG16002 UO1 and AD genetics investigators. Core C will develop and implement analyses plans, in collaboration with other ADSP/RFA-AG16002 UO1 investigators (also see the Overall Component). Core B will provide the high- performance computing infrastructure for computationally intensive tasks. Core B will manage all CGAD phenotype, genotype, annotation, and analysis results, and distribute data/files to all ADSP/RFA-AG16002 investigators, to Genotypes and Phenotypes (dbGaP), and to NIA Genetics of Alzheimer's Data Storage Site (NIAGADS). Specific tasks of Core B are: 1) Capture and maintain all relevant data including sequence data, genotypes, phenotypes, analysis results, and other relevant data from ADSP Discovery Phase, Replication Phase, and non-ADSP sources; 2) Harmonize genotype and phenotype data using protocols in collaboration with Core C; 3) Impute single nucleotide variants (SNVs) for all genome-wide SNV array data using the Haplotype Reference Consortium (HRC) reference panels and AD-specific variants from ADSP WES/WGS data; 4) Call structural variants (SVs) for ADSP Replication and non-ADSP data; 5) Provide in silico annotation analysis-ready files using the Genome Wide Annotation Resource (GWAR) and current ADSP protocols; 6) Transfer information to ADSP, RFA-AG-16002 U01, and the general research community via CGAD/ADSP website, relational databases, and NIA approved data repositories including dbGaP and NIAGADS; 7) Provide infrastructure and support for CGAD computing and analyses.