The next iteration of the AMP-T2D Knowledge Portal

AMP-T2D 知识门户的下一个迭代

• 批准号: 10242932
• 负责人: MICHAEL L BOEHNKE
• 金额: $ 335.64万
• 依托单位: BROAD INSTITUTE, INC.
• 依托单位国家: 美国
• 财政年份: 2015
• 资助国家: 美国
• 起止时间: 2015-05-01 至 2025-06-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10242932
• 关键词: Address; Bioinformatics; Biological Response Modifier Therapy; Biology; California; Chromosome Mapping; Collaborations; Complex; Computer software; Custom; Data; Data Analyses; Data Analytics; Data Set; Databases; Development; Disease; Education and Outreach; Ensure; European; Feedback; Fostering; Foundations; Funding; Generations; Genes; Genetic; Genomics; Genotype; Goals; Individual; Infrastructure; Institutes; Internet; Knowledge; Knowledge Portal; Link; Medicine; Methods; National Institute of Diabetes and Digestive and Kidney Diseases; Non-Insulin-Dependent Diabetes Mellitus; Pattern; Protocols documentation; RFP2 gene; Research Personnel; Resources; Source; Specific qualifier value; Susceptibility Gene; Time; Transcript; Universities; Update; Variant; application programming interface; causal variant; data access; data portal; data tools; data warehouse; federated computing; functional genomics; genetic association; genomic data; human disease; knowledge base; new therapeutic target; novel; novel therapeutic intervention; phenotypic data; prevent; programs; response; risk variant; software development; tool; trait; web interface; web portal

Abstract Despite much progress in mapping genetic associations for T2D, its complications, and related traits, the underlying causal variants, effector genes, and gene networks are not well understood. The AMP-T2D consortium aims to accelerate the pace by which these disease mechanisms are elucidated, through generation and integration of novel genomic data interrogating genetic associations. This project addresses RFA-DK-19-505 “Limited Competition for the Accelerating Medicines Partnership (AMP) in Type 2 Diabetes Knowledge Portal (UM1)” and will be conducted by the leaders of the current AMP T2D Knowledge Portal (T2DKP). Its goal is to continue development of the T2DKP by enhancing its infrastructure to aggregate, analyze, and visualize genetic and genomic datasets and results, thereby helping to identify causal risk variants and effector genes for T2D and its complications. The goal of specific aim 1 is to enhance the data and knowledge base for the T2DKP. It will enhance the T2DKP software platform to represent additional classes of ‘omic and phenotypic data, integrate datasets relevant to AMP-T2D within a federated data warehouse, develop new methods and analytical pipelines to analyze these data, and enable them to be accessed by download or application programming interfaces (APIs). The goal of specific aim 2 is to enhance the publicly accessible T2DKP web interface. It will develop new web modules to visualize datasets within the T2DKP, extend the T2DKP with tools from external public genomic databases, maintain curated knowledge lists for T2D and its complications, allow users to customize data and tools shown within the T2DKP, and update the T2DKP in response to stakeholder feedback. The goal of specific aim 3 is to coordinate the AMP-T2D consortium. It will provide operational support for AMP-T2D investigators, foster collaborations with external partners, track and ensure the timely release of AMP-T2D datasets, administer an opportunity pool to fund additional AMP-T2D projects, and conduct outreach and training on the T2DKP. Significance: The project would extend the T2DKP with new capabilities to integrate and display datasets with information regarding causal variants, effector transcripts, and gene networks for T2D and its complications. Public access to these data and results will significantly accelerate efforts to identify new therapeutic strategies to prevent, treat, or reverse T2D and its complications.

抽象的 尽管在绘制 T2D 遗传关联、其并发症和相关特征方面取得了很大进展， 潜在的因果变异、效应基因和基因网络尚不清楚。 AMP-T2D 该联盟旨在加快阐明这些疾病机制的步伐，通过 生成和整合新的基因组数据来询问遗传关联。该项目地址 RFA-DK-19-505“2 型糖尿病加速药物合作伙伴关系 (AMP) 的有限竞争 知识门户（UM1）”，将由当前 AMP T2D 知识门户的领导者主持 （T2DKP）。其目标是通过增强基础设施来聚合、继续发展 T2DKP， 分析并可视化遗传和基因组数据集及结果，从而帮助识别因果风险 T2D 及其并发症的变异体和效应基因。 具体目标 1 的目标是增强 T2DKP 的数据和知识库。它将增强 T2DKP 软件平台代表额外类别的组学和表型数据，集成数据集 与联合数据仓库中的 AMP-T2D 相关，开发新方法和分析管道 分析这些数据，并使其能够通过下载或应用程序编程接口进行访问 （蜜蜂）。具体目标 2 的目标是增强可公开访问的 T2DKP Web 界面。将会发展 新的 Web 模块可可视化 T2DKP 内的数据集，使用外部公共工具扩展 T2DKP 基因组数据库，维护 T2D 及其并发症的精选知识列表，允许用户定制 T2DKP 中显示的数据和工具，并根据利益相关者的反馈更新 T2DKP。目标 具体目标 3 是协调 AMP-T2D 联盟。它将为 AMP-T2D 提供运营支持 研究人员，促进与外部合作伙伴的合作，跟踪并确保 AMP-T2D 的及时发布 数据集，管理机会池以资助其他 AMP-T2D 项目，并进行外展和 T2DKP 培训。 意义：该项目将扩展 T2DKP，提供新的集成和显示功能 包含有关 T2D 及其相关疾病的因果变异、效应转录本和基因网络信息的数据集 并发症。公众对这些数据和结果的访问将大大加快识别新方法的努力 预防、治疗或逆转 T2D 及其并发症的治疗策略。