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: 10907966
• 负责人: Christophe G. Lambert
• 金额: $ 56.21万
• 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/10907966
• 关键词: Area; Biological; Chemicals; Clinical; Communities; Complex; Darkness; Data; Data Coordinating Center; Data Set; Databases; Disease; Disparate; Ensure; FAIR principles; Family; Feedback; Funding; G-Protein-Coupled Receptors; Generations; Genes; Genome; Genotype; Genotype-Tissue Expression Project; Goals; Investments; Ion Channel; Knowledge Management Center; Manuals; Mutation; Pathology; Pathway interactions; Phenotype; Protein Kinase; Proteins; Proteome; Resources; Risk; Source; Structure; Technology; Update; data integration; design; differential expression; gene function; genetic variant; genome resource; human disease; improved; knowledgebase; 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.

Illuminating the Druggable Genome（IDG）财团有两个主要目标：第一，整合不同的基因组。 从多个来源收集以蛋白质和疾病为中心的数据类型，整合和协调它们，然后将它们 第二，调整和扩展现有技术，以揭示选定的 G蛋白偶联受体、离子通道和蛋白激酶家族的成员未被充分研究。内 IDG知识管理中心（IDG-KMC）整合了来自化学、生物、 和临床资源，并开发了可用于导航未充分研究的蛋白质的平台（ “暗基因组”），以及它们对特定病理的潜在贡献。具体来说，IDG KMC正在创建 自动化的工作流程，以捕获整个蛋白质组的相关公共数据， IDG清单，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 &路径。IDG KMC设计、开发、实施和更新目标中央存储库数据库 （TCRD），蛋白质知识库。IDG KMC还扩展、改进和维护灯塔、TCRD 门户网站，支持自动数据汇总和积极的社区反馈。TCRD和Pharos 已经整合了三个共同基金项目的数据：GTEx、IMPC/KOMP和LINCS。IDG KMC 整合了数据和资源生成中心（DRGCs）生成的所有数据， 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门户网站上提供这些数据。 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）项目产生有关遗传变异的数据， 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 没有太多关于他们的信息。未诊断疾病网络（Undiagnosed Disease Network，UDN） 识别与未确诊疾病相关的基因突变。IDG-KMC有来自 经验证据和计算预测这些基因的功能，这是常见的 被研究的因此，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资源提供基因登陆页面，提供有关基因的独特信息。 这些登陆页面可以在公平性方面进行改进，并可以成为CFDE的资源。在 此外，DRGCs和R 03 IDG获奖者收集的数据可以丰富CFDE门户网站的内容。在 特别是，R 03项目的结果（图1）目前没有被评估或存储在一个地方，因此存在风险 害怕迷失CFDE的参与将确保这项投资的数据长期可用。