Core G: Genetics and Molecular Profiling

遗传学和基因组学技术的许多最新进展和遗传风险知识的快速增长 阿尔茨海默病(AD)的因素加强了整合基因的重要性和机会 将信息和设计纳入广告研究。遗传学和分子图谱(GMP)核心将支持遗传学 以及“闯入”AD的ADRC调查员、实习生和老牌调查员进行的组学研究 研究，并利用亚洲发展研究中心的资源为翻译研究奠定基础。鉴于…的中心地位 遗传学和组学数据到不同的科学领域，大多数AD研究人员的不切实际的期望 能够并负担得起生成此类数据，以及避免成本高昂的重复数据生成在 为了保存有限而宝贵的标本资源，GMP核心将产生一系列遗传和 ‘体裁数据。虽然GMP核心是ADRC的一个新组件，但它将建立在我们的遗传和 BU ADC参与者和其他队列的分子特征导致了许多重要的 这些发现大大增加了我们对导致阿尔茨海默病的机制和生物学途径的了解。我们 将继续作为组织和分析亚洲发展研究中心内遗传数据的集中资源 和ADRC附属项目，通过提供协调分子研究工作所需的基础设施 将有助于更好地理解痴呆症和相关疾病的基因-表型关系 内表型。具体地说，GMP核心将(1)处理、提取DNA和RNA、存储和分发基因 从ADRC参与者获得的生物标本(如血液、脑、唾液)中提取的材料；(2) 生成全基因组阵列、DNA和RNA序列、表观遗传学和脂体学数据，供ADRC和 其他BU调查人员以及科学界；(3)跟踪遗传物质的收集和使用； (4)与数据管理和统计核心合作管理所有遗传和基因组数据；(5) 维护一个完整的遗传和基因组数据库，包括BU ADRC产生的所有遗传和基因组数据 样本以及现有遗传和基因组数据的工作库；这些数据将以适当的方式提供 在核心研究人员的指导下，将许可作为基因分析的资源。GMP核心将 还便于从现有数据集中访问广泛的遗传和基因组数据集，这些数据集可用于 核心调查人员包括来自ADGC、ADSP、ADNI、AMP的个人级别和/或汇总数据- AD和UK Biobank；以及(5)为设计遗传和基因组研究以及数据提供支持 分析。与我们对精准医学的愿景一致，这一侧写与广泛的表征相结合 在临床、生物标记物和神经病理学核心中执行将促进不可知论和假说- 推动研究。CORE还将与波士顿大学(BU)现有的研究人员发起的研究合作 并与其他核心加强现有的计划，加快遗传学和组学的结合 调查由ADRC附属机构以及其他BU调查人员进行的痴呆症研究。

Many recent advances in genetics and genomics technologies and rapid growth in knowledge of genetic risk factors for Alzheimer disease (AD) reinforce the importance of and opportunities for incorporating genetic information and designs into AD research. The Genetics & Molecular Profiling (GMP) Core will support genetics and `omics research by ADRC investigators, trainees and established investigators who are “breaking in” to AD research, and to build foundations for translational studies using ADRC resources. Given the centrality of genetics and `omics data to diverse scientific areas, unrealistic expectations that most AD researchers are capable and can afford to generate such data, and importance of avoiding costly duplicative data generation in order to preserve limited and precious specimen resources, the GMP Core will generate an array of genetic and `omic data. Although the GMP Core is a new component of the ADRC, it will build on our work of genetic and molecular characterization of BU ADC participants and other cohorts that has led to numerous important discoveries and greatly increased our understanding of mechanisms and biological pathways leading to AD. We will continue to serve as a centralized resource for the organization and analysis of genetic data within the ADRC and ADRC affiliated projects by providing an infrastructure needed to coordinate molecular research efforts that will lead to a better understanding of genotype-phenotype relationships for dementia and related endophenotypes. Specifically, the GMP Core will (1) process, extract DNA and RNA, store and distribute genetic material extracted from biological specimens (e.g., blood, brain, saliva) obtained from ADRC participants; (2) generate genome-wide array, DNA and RNA sequence, epigenetic and lipidomic data for use by ADRC and other BU investigators, as well as the scientific community; (3) track the collection and usage of genetic material; (4) manage all genetic and `omic data in collaboration with the Data Management & Statistics (DMS) Core; (5) maintain an integrated genetic and `omic database includes all genetic and `omic data generated from BU ADRC samples, as well as working libraries of extant genetic and `omic data; these data will be available with proper permissions as a resource for genetic analyses with guidance from the core investigators. The GMP Core will also facilitate access to an extensive set of genetic and genomic data from extant datasets that are available to the Core investigators including individual level and/or summarized data from the ADGC, ADSP, ADNI, AMP- AD, and UK Biobank; and (5) provide support for designing genetic and genomic studies, as well as for data analysis. In line with our vision for precision medicine, this profiling integrated with the extensive characterization performed in the Clinical, Biomarker and Neuropathology Cores will facilitate both agnostic and hypothesis- driven research. The Core will also partner with existing investigator-initiated research at Boston University (BU) and with the other Cores to strengthen existing programs and accelerate the incorporation of genetics and `omics into dementia research conducted by ADRC-affiliated as well as other BU investigators.