Illuminating the Druggable Genome Data Coordinating Center - Engagement Plan with the CFDE

阐明可药物基因组数据协调中心 - 与 CFDE 的合作计划

• 批准号: 10217890
• 负责人: Christophe G. Lambert
• 金额: $ 44.7万
• 依托单位: UNIVERSITY OF NEW MEXICO HEALTH SCIS CTR
• 依托单位国家: 美国
• 财政年份: 2020
• 资助国家: 美国
• 起止时间: 2020-09-23 至 2024-09-22
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10217890
• 关键词: Area; Biological; Chemicals; Clinical; Communities; Complex; Data; Data Coordinating Center; Data Set; Databases; Disease; Ensure; FAIR principles; Family; Feedback; Funding; G-Protein-Coupled Receptors; Gene Proteins; Generations; Genes; Genome; Genotype; Genotype-Tissue Expression Project; Goals; Information Resources Management; Investments; Ion Channel Protein; Manuals; Mutation; Pathology; Pathway interactions; Phenotype; Protein Kinase; Proteins; Proteome; Resources; Risk; Source; Structure; Technology; Update; data resource; design; differential expression; gene function; genetic variant; genome resource; human disease; improved; knowledge base; member; multiple data types; new therapeutic target; programs; repository

The Illuminating the Druggable Genome (IDG) consortium has two major goals: First, consolidate disparate protein- and disease-centric data types from multiple sources, integrate and harmonize them, then make them readily available to the public; Second, adapt and scale existing technologies to unveil the function of selected understudied members of the G-protein coupled receptor, ion channel and protein kinase families. Within the IDG, the Knowledge Management Center (IDG-KMC) integrates data from a wide range of chemical, biological and clinical resources, and has developed platforms that can be used to navigate understudied proteins (the “dark genome”), and their potential contribution to specific pathologies. Specifically, the IDG KMC is creating automated workflows to capture relevant public data for the entire proteome including manual annotations for the IDG list, covering five major areas: genotype, phenotype, expression, structure & function, and interactions & pathways. The IDG KMC designs, develops, implements, and updates the Target Central Repository Database (TCRD), a protein knowledgebase. The IDG KMC also expands, improves, and maintains Pharos, the TCRD portal, with support for automated data summaries, and active community feedback. Both TCRD and Pharos already integrate data from three Common Fund projects: GTEx, IMPC/KOMP and LINCS. The IDG KMC consolidates all the data generated by the Data and Resource Generation Centers (DRGCs), improving these data findability, accessibility, interoperability, reusability (FAIRness) and serving these data on the Pharos portal. The IDG program interface with the CFDE will enable hypothesis generation about novel drug targets for complex diseases. Many other Common Fund (CF) programs produce data about genetic variants and differentially expressed genes and proteins in the context of many complex human diseases. These genes in many cases do not have much information about them. For example, the CF program Undiagnosed Disease Network (UDN) identifies mutations in genes associated with undiagnosed diseases. The IDG-KMC has information from empirical evidence and from computational predictions about the function of these genes, which are commonly under-studied. Hence, data from the IDG-KMC can enrich the CFDE users who examine datasets that list genes and proteins. Several IDG resources provide gene landing pages that provide unique information about genes. These landing pages can be improved regarding FAIRness and can become a resource for the CFDE. In addition, data collected by the DRGCs and by the R03 IDG awardees can enrich the content of the CFDE portal. In particular, results from the R03 projects (Fig. 1) are currently not evaluated or stored in one place and are at risk of becoming lost. The CFDE engagement will ensure that data from this investment remains available long term.

照亮可药物基因组 (IDG) 联盟有两个主要目标：首先，整合不同的基因组 来自多个来源的以蛋白质和疾病为中心的数据类型，整合和协调它们，然后使它们 随时可供公众使用；其次，调整和扩展现有技术以揭示所选技术的功能 研究了 G 蛋白偶联受体、离子通道和蛋白激酶家族的成员。内 IDG 知识管理中心 (IDG-KMC) 整合了来自各种化学、生物领域的数据 和临床资源，并开发了可用于导航未充分研究的蛋白质（ “黑暗基因组”），以及它们对特定病理学的潜在贡献。具体来说，IDG KMC 正在创建 自动化工作流程来捕获整个蛋白质组的相关公共数据，包括手动注释 IDG列表，涵盖五个主要领域：基因型、表型、表达、结构和功能以及相互作用 和途径。 IDG KMC 设计、开发、实施和更新目标中央存储数据库 （TCRD），蛋白质知识库。 IDG KMC 还扩展、改进和维护 Pharos、TCRD 门户，支持自动数据摘要和活跃的社区反馈。 TCRD 和 Pharos 已经整合了来自三个共同基金项目的数据：GTEx、IMPC/KOMP 和 LINCS。 IDG KMC 整合数据和资源生成中心 (DRGC) 生成的所有数据，改进这些数据 数据的可查找性、可访问性、互操作性、可重用性（公平性）并在 Pharos 门户上提供这些数据。 IDG 程序与 CFDE 的接口将能够生成关于复杂的新药物靶点的假设 疾病。许多其他共同基金 (CF) 计划产生有关遗传变异和差异的数据 在许多复杂的人类疾病中表达基因和蛋白质。这些基因在很多情况下确实 关于他们的信息不多。例如，CF 计划未确诊疾病网络 (UDN) 识别与未确诊疾病相关的基因突变。 IDG-KMC 的信息来自 关于这些基因功能的经验证据和计算预测，这些基因通常是 研究不足。因此，来自 IDG-KMC 的数据可以丰富检查列出基因的数据集的 CFDE 用户 和蛋白质。一些 IDG 资源提供了基因登陆页面，其中提供了有关基因的独特信息。 这些登陆页面可以在公平性方面得到改进，并且可以成为 CFDE 的资源。在 此外，DRGC 和 R03 IDG 获奖者收集的数据可以丰富 CFDE 门户的内容。在 特别是，R03 项目（图 1）的结果目前尚未评估或存储在一个地方，并且存在风险 迷失的。 CFDE 的参与将确保这项投资的数据长期可用。