The next iteration of the AMP-T2D Knowledge Portal

摘要 尽管在绘制T2D、其并发症和相关特征的遗传关联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，通过 产生和整合询问遗传关联的新的基因组数据。本项目致力于 RFA-DK-19-505“加速2型糖尿病药物合作伙伴(AMP)的有限竞争 知识门户(UM1)“，并将由当前AMP T2D知识门户的领导进行 (T2DKP)。其目标是继续发展T2DKP，加强其基础设施， 分析并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 T2D及其并发症的变异和效应基因。 具体目标1的目标是加强T2DKP的数据和知识库。它将增强 T2DKP软件平台用于表示额外类别的基因组和表型数据，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以 分析这些数据，并使其能够通过下载或应用程序编程接口访问 (API)。具体目标2的目标是加强可公开访问的T2DKP网络界面。它会发展成 新的Web模块用于可视化T2DKP中的数据集，使用来自外部公共的工具扩展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，并根据利益攸关方的反馈更新T2DKP。目标是 具体目标3是协调AMP-T2D财团。它将为AMP-T2D提供作战支持 调查人员，促进与外部合作伙伴的合作，跟踪并确保及时发布AMP-T2D 数据集，管理机会池以资助其他AMP-T2D项目，并开展外联和 关于T2DKP的培训。 意义：该项目将使用新的集成和显示功能来扩展T2DKP 具有关于T2D和ITS的因果变体、效应器转录本和基因网络的信息的数据集 并发症。公众对这些数据和结果的访问将大大加快确定新的 预防、治疗或逆转T2D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.