DCC supplement for Experimental Models Portal and Enhanced Security

项目摘要。 这是一项支持设计一个试验数据门户网站的建议，用于共享和分析实验数据， 唐氏综合症的模型，并加强现有的研究人员门户网站的安全生态系统， INCLUDE数据中心 唐氏综合征（DS）是由21号染色体三体（chr 21，T21）引起的，约700名新生儿中有1人患病， 使其成为人类群体中最普遍的染色体异常， 智力和发育残疾。T21影响几乎所有器官的发育和/或功能 系统，使DS患者在整个生命周期中易患许多并发症。然而， 已知chr 21的额外拷贝如何导致DS的多种发育和临床特征。 因此，显然需要剖析chr 21的额外拷贝之间的因果关系， chr 21基因的过表达，以及通过使用实验模型，如 啮齿动物模型和诱导多能干细胞（iPSC）及其后代。 DS研究领域已经开发了许多实验模型来研究T21在 实验室，包括无数的动物模型和有和没有T21的iPSC。但目前尚无 这是一个综合平台，用于识别、共享和分析这些实验产生的数据集。 在此背景下，我们建议开发一个试点研究人员门户网站，用于共享和分析来自 这是DS的实验模型，同时也增强了现有数据中心的安全框架。具体 这项建议的目的是： 1.开发一个管道，用于识别、摄取、管理、协调和共享来自 DS的实验模型 2.开发一个演示在线门户，用于搜索、识别和分析实验模型数据 的DS。 3.让专家社区参与试点门户网站的beta测试。 4.增强INCLUDE数据中心的安全生态系统。 通过此补充，我们将使用经过beta测试的演示门户和基础专业知识 未来在INCLUDE数据中心内创建实验模型门户，同时也完全 符合先进的安全标准。

PROJECT SUMMARY. This is a proposal to support the design of a pilot data portal for sharing and analysis of data from experimental models of Down syndrome, and to enhance the security ecosystem of the existing researcher portal known as the INCLUDE Data Hub. Down syndrome (DS), which is caused by trisomy of chromosome 21 (chr21, T21), affects ~1 in 700 newborns, making it the most prevalent chromosomal abnormality in the human population and a leading cause of intellectual and developmental disability. T21 affects the development and/or function of nearly every organ system, predisposing persons with DS to many co-occurring conditions across the lifespan. However, little is known about how an extra copy of chr21 causes the multiple developmental and clinical hallmarks of DS. Therefore, there is a clear need to dissect cause-effect relationships between an extra copy of chr21, overexpression of chr21 genes, and the multiple traits of DS through the use of experimental models, such as rodent models and induced pluripotent stem cells (iPSCs) and their progenies. The DS research field has developed many experimental models to investigate the effects of T21 in the laboratory, including myriad animal models and iPSCs with and without T21. However, there is currently no integrated platform for the identification, sharing and analysis of the datasets generated from these experiments. Within this context, we propose here to develop a pilot researcher portal for sharing and analysis of data from experimental models of DS, while also enhancing the security framework of the existing Data Hub. The Specific Aims of this proposal are: 1. Develop a pipeline for the identification, ingestion, curation, harmonization and sharing of data from experimental models of DS. 2. Develop a demonstration online portal for search, identification, and analysis of data from experimental models of DS. 3. Engage a community of experts in the beta testing of the pilot portal. 4. Enhance the security ecosystem of the INCLUDE Data Hub. Enabled by this supplement, we will count with a beta-tested demonstration portal and the underlying expertise for the future creation of an Experimental Models Portal within the INCLUDE Data Hub, while also becoming fully compliant with advanced security standards.