Integration of MARRVEL and ModelMatcher to facilitate undiagnosed disease research

标题：整合MARRVEL和ModelMatcher以促进未诊断疾病研究 项目概述：罕见疾病患者常常经历艰苦的诊断和治疗过程。 最先进的基因组测序技术可能会为其中约30%的病例提供答案，但其中许多是 经常留下几个候选基因变异，需要进行实验后续研究才能确定 因果关系。除了对临床站点和 未诊断疾病网络的测序核心--模式生物筛选中心 (MOSC)一直在开发生物信息学工具，以支持统一数字网络的总体使命。在过去的四年里 多年来，我们一直在开发一种生物信息学工具MARRVEL，以收集和显示重要的数据 对于基于分散在Web上的各种数据库的罕见变异分析是必要的 个性化医疗。此外，MOSC刚刚建立并启动了一个集中的协作注册中心 科学家称为ModelMatcher，可供临床医生和其他未诊断疾病的利益相关者使用 研究(例如，患者、家庭成员、患者组织、资助机构、制药公司)以确定基本的 对促进诊断、转化和治疗研究的合作感兴趣的科学家。 尽管MARRVEL和ModelMatcher都是有价值的资源，但这两者都构建在截然不同的基础上 平台由于技术原因，目前这些服务之间没有相互作用。在这个项目中， 我们将通过广泛链接这两个网站来修改和升级MARRVEL和ModelMatcher，以增加 通过更新在线门户和开发API(应用程序)实现实用程序、价值和用户体验 编程接口)。完成后，MARRVEL用户将能够立即识别科学家 他们正在积极地研究模型生物中的特定基因，ModelMatcher用户将能够收集 从不同的人类数据库和不同的模型中获得关于他们感兴趣的基因的全面信息 当生物体搜索注册表时。这两个独一无二的网站的整合已经成为 通过UDN的支持开发不仅会对罕见和未确诊的研究产生很大影响 疾病，但将促进信息交流和合作涉及常见疾病的基因，如 以及包括癌症在内的其他遗传性疾病。最后，新开发的API将允许其他数据库 通过计算访问存储在ModelMatcher和MARRVEL中的信息，进一步促进协作 在国际上和跨多个科学和临床学科。

Title: Integration of MARRVEL and ModelMatcher to facilitate undiagnosed disease research Project Summary: Rare disease patients often experience painstaking diagnostic and therapeutic odysseys. State-of-the-art genome sequencing technologies may provide answers for ~30% of these cases, but many are often left with a handful of candidate genetic variants that require experimental follow-up studies to establish causality. In addition to performing functional studies of candidate variants identified by the Clinical Sites and the Sequencing Core of the Undiagnosed Diseases Network (UDN), the Model Organisms Screening Centers (MOSCs) has been developing bioinformatic tools to support the overall mission of the UDN. For the past four years, we have been developing a bioinformatic tool MARRVEL, to gather and display important data that is necessary for rare variant analysis based on variety of databases that are scattered around the web for personalized medicine. In addition, the MOSC just built and launched a centralized registry of collaborative scientists called ModelMatcher that can be used by clinicians and other stakeholders of undiagnosed disease research (e.g. patients, family members, patient organizations, funding agencies, pharma) to identify basic scientists who are interested in collaboration to facilitate diagnostic, translational and therapeutic research. Although both MARRVEL and ModelMatcher are valuable resources, the two have been built on distinct platforms due to technical reasons and there is currently no cross-talk between these services. In this project, we will modify and upgrade MARRVEL and ModelMatcher by extensively linking the two websites to increase utility, value, and user-experience by updating the online portals and through development of APIs (Application Programming Interfaces). Upon completion, MARRVEL users will be able to instantaneously identify scientists who are actively working on a specific gene in model organisms, and ModelMatcher users will be able to gather comprehensive information about their gene of interest from diverse human databases and in various model organisms when they search the registry. The integration of these two one-of-its-kind websites that have been developed through the support of the UDN will not only have a large impact on studies of rare and undiagnosed diseases, but will stimulate information exchange and collaborations on genes involved in common diseases as well as other genetic disorders including cancer. Finally, newly developed APIs will allow other database to computationally access information stored in the ModelMatcher and MARRVEL, further facilitating collaborations internationally and throughout multiple scientific and clinical disciplines.