Data Resource and Administrative Coordination Center for the Scalable and Systematic Neurobiology of Psychiatric and Neurodevelopmental Disorder Risk Genes Consortium

摘要 我们的团队建议将SSPsyGene联盟引入数据生物圈。我们将通过调整 我们已经为其他NIH研究所部署了数据生物圈技术和管理技术， NIH共同基金、NIH主任办公室、Chan Zuckerberg Initiative（CZI）和加州 再生医学研究所（CIRM），使SSPsyGene可在多个疾病领域互操作。 我们还通过参与BICCN，Psychiatric Cell Map， 倡议，CZI的儿科脑地图，NHGRI的活细胞基因组学/生物技术中心，以及我们的关闭 与PsychENCODE和艾伦脑研究所的关系。对于SSPsyGene，我们有4个主要任务：（1）我们 将收集所有必要的信息，使财团能够在100到250个基因中进行选择， 以实验表征（目标2）。我们已经确定了20多种不同类型的信息， 为此目的而整合，其中许多已经在UCSC基因组浏览器中。我们将应用多个 排名算法，以这种综合信息源，以指导SSPsyGene财团的决定 过程(2)我们将致力于建立一个本体结构，它具有足够的表达能力，但又完全可维护， 支持研究人员和机器使用FAIR数据（目标3）。我们之前与UCSC的合作 基因组浏览器和我们与本体论组织的密切关系将帮助我们弥合差距 在分子、细胞、组织/类器官和模式生物测量之间， 必要时的资源。受OMOP和FHIR中临床本体的经验启发，我们 提出一种新的服务，允许研究人员查询大型临床试验中的表型-表型关联。 队列，如我们所有人和HEDIS，医疗保险和医疗补助记录的数据库。(3)我们将创建 一个最先进的SSPsyGene数据生物圈，与我们为其他NIH研究所创建的完全兼容 (Aim 4）。我们的重点将是数据提交过程的标准化和广泛的质量 监测以确保及时有效地发布数据。我们将充分利用我们与全球 基因组学和健康联盟，以确保所有数据和元数据将符合公平的标准。我们有 具有将由SSPsyGene联盟生成的复杂数据类型的经验，包括 - 组学、成像、电生理学和其他数据类型。(4)我们是值得信赖的第三方组织者 对于许多NIH联盟来说，在数据共享和发布方面建立了公平和公正的声誉， 在协调、达成共识、发布结果和创建资源方面的专业知识， 影响（目标5）。基于我们在生物医学数据，元数据和本体，FAIR平台， 在SSPsyGene联盟的领导下，我们有信心实现SSPsyGene联盟的所有目标。

ABSTRACT Our team proposes to lead the SSPsyGene consortium into the Data Biosphere. We will do this by adapting data biosphere technology and management techniques we have already deployed for other NIH institutes, NIH Common Fund, the NIH Office of the Director, the Chan Zuckerberg Initiative (CZI), and the California Institute for Regenerative Medicine (CIRM), making SSPsyGene interoperable across multiple disease areas. We also bring our expertise with neurological data through our involvement with BICCN, Psychiatric Cell Map Initiative, CZI’s Pediatric Brain Map, NHGRI's Center for Live Cell Genomics/Biotechnology, and our close relationship with PsychENCODE and the Allen Brain Institute. For SSPsyGene, we have 4 major tasks: (1) We will assemble all the information necessary to empower the consortium to choose between 100 and 250 genes to experimentally characterize (Aim 2). We have identified more than 20 different types of information to be integrated for this purpose, many of which are already in the UCSC Genome Browser. We will apply multiple ranking algorithms to this integrated information source to guide the SSPsyGene Consortium’s decision process. (2) We will work to establish an ontology structure that is sufficiently expressive yet fully maintainable, supporting FAIR data use by both researchers and machines (Aim 3). Our previous work with the UCSC Genome Browser and our close relationships with ontology organizations will help us to bridge the gaps between molecular, cellular, tissue/organoid, and model organism measurements, and to extend these resources when needed. Inspired by our experience with the clinical ontologies in OMOP and FHIR, we propose a novel service to allow researchers to query phenotype-phenotype associations in large clinical cohorts, such as All of Us and HEDIS, the database of records from Medicare and Medicaid. (3) We will create a state-of-the-art SSPsyGene Data Biosphere fully compatible with those we created for other NIH institutes (Aim 4). Our emphasis will be on standardization of the data submission process with extensive quality monitoring to ensure timely and effective data release. We will leverage our deep involvement with the Global Alliance for Genomics and Health to ensure all data and metadata will meet FAIR standards. We have experience with the complex data types that will be generated by the SSPsyGene consortium, including -omics, imaging, electrophysiology and other data types. (4) We have served as trusted third party organizers to many NIH consortia, developing a reputation for fairness and impartiality in data sharing and publication, and expertise in coordinating, generating consensus, publishing results, and creating a resource with maximal impact (Aim 5). Based on our strengths in biomedical data, metadata and ontologies, FAIR platforms, and consortium leadership, we are confident that we will achieve all the goals of the SSPsyGene Consortium.