The next iteration of the AMP-T2D Knowledge Portal

摘要 尽管在绘制T2 D、其并发症和相关性状的遗传关联方面取得了很大进展， 潜在的致病变异体、效应基因和基因网络还没有被很好地理解。AMP-T2D 该联盟旨在加快阐明这些疾病机制的步伐， 产生和整合新的基因组数据，询问遗传关联。该项目涉及 RFA-DK-19-505“2型糖尿病加速药物伙伴关系（AMP）的有限竞争 知识门户（UM 1）”，将由当前AMP T2 D知识门户的领导人进行 （T2DKP）。其目标是通过加强基础设施来继续开发T2 DKP， 分析和可视化遗传和基因组数据集和结果，从而帮助识别因果风险 T2 D及其并发症的变体和效应基因。 具体目标1的目的是加强T2 DKP的数据和知识库。它将加强 T2 DKP软件平台代表附加组学和表型数据类、集成数据集 与联合数据仓库中的AMP-T2 D相关，开发新的方法和分析管道， 分析这些数据，并使它们能够通过下载或应用程序编程接口访问 （API）。具体目标2的目标是增强可公开访问的T2 DKP网络界面。经济社会发展呈现 新的Web模块，用于可视化T2 DKP中的数据集，使用外部公共工具扩展T2 DKP 基因组数据库，维护T2 D及其并发症的精选知识列表，允许用户自定义 T2 DKP中显示的数据和工具，并根据利益相关者的反馈更新T2 DKP。目标 具体目标3是协调AMP-T2 D联盟。它将为AMP-T2 D提供操作支持 研究人员，促进与外部合作伙伴的合作，跟踪并确保及时发布AMP-T2 D 数据集，管理一个机会池，为额外的AMP-T2 D项目提供资金，并开展外联活动， 关于T2 DKP的培训 意义：该项目将扩展T2 DKP的新功能，以集成和显示 包含有关T2 D及其因果变异、效应转录本和基因网络信息的数据集 并发症公众获得这些数据和结果将大大加快确定新的 预防、治疗或逆转T2 D及其并发症的治疗策略。

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.