Core G: Genetics and Molecular Profiling

遗传学和基因组学技术的许多最新进展以及遗传风险知识的快速增长 阿尔茨海默病（AD）的因素加强了整合遗传因素的重要性和机会。 信息和设计到AD研究。遗传学和分子分析（GMP）核心将支持遗传学 和`组学研究由ADRC调查人员，学员和建立调查谁是“闯入”AD 研究，并利用ADRC资源为转化研究奠定基础。鉴于的中心地位 遗传学和组学数据到不同的科学领域，不切实际的期望，大多数AD研究人员是 有能力并负担得起生成此类数据的国家， 为了保护有限而珍贵的标本资源，GMP核心将产生一系列遗传和 omic数据。虽然GMP核心是ADRC的一个新组成部分，但它将建立在我们的遗传学工作基础上， BU ADC参与者和其他队列的分子表征导致了许多重要的 这些发现大大增加了我们对导致AD的机制和生物学途径的理解。我们 将继续作为ADRC内遗传数据组织和分析的集中资源 和ADRC附属项目，提供协调分子研究工作所需的基础设施， 将导致更好地理解痴呆症和相关疾病的基因型-表型关系， 内表型具体而言，GMP核心将（1）处理，提取DNA和RNA，存储和分配遗传物质， 从生物样本中提取的材料（例如，血液、脑、唾液）;（2） 生成全基因组阵列、DNA和RNA序列、表观遗传学和脂质组学数据供ADRC使用， 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（DMS）核心合作管理所有遗传和`组学数据;（5） 维护一个综合的遗传和`组学数据库，包括BU ADRC生成的所有遗传和`组学数据 样本，以及现存的遗传和“组学数据的工作图书馆;这些数据将提供适当的 在核心研究人员的指导下，将许可作为遗传分析的资源。GMP核心将 还有助于从现有数据集中获取广泛的遗传和基因组数据， 核心研究者，包括来自ADGC、ADSP、ADNI、AMP的个体水平和/或汇总数据- AD和英国生物库;以及（5）为设计遗传和基因组研究以及数据提供支持 分析.根据我们对精准医疗的愿景，这种分析与广泛的表征相结合， 在临床、生物标志物和神经病理学核心中进行的研究将有助于不可知论和假设- 驱动研究。该核心还将与波士顿大学（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，并加快纳入遗传学和“组学” 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.