Integration of MARRVEL and ModelMatcher to facilitate undiagnosed disease research

MARRVEL 和 ModelMatcher 的集成促进未确诊疾病研究

• 批准号: 10377782
• 负责人: HUGO J BELLEN
• 金额: $ 15万
• 依托单位: BAYLOR COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2015
• 资助国家: 美国
• 起止时间: 2015-09-15 至 2022-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10377782
• 关键词: Animal Model; Australia; Bioinformatics; Canada; Clinical; Collaborations; Communities; Community Outreach; Computer software; Custom; DNA Sequencing Facility; Data; Databases; Development; Diagnostic; Diagnostics Research; Discipline; Disease; Disease model; Drosophila genus; Etiology; Europe; Family member; FlyBase; Follow-Up Studies; Funding Agency; Gene Expression Profile; Genes; Genetic Diseases; Goals; Human; Individual; International; Internet; Leadership; Left; Link; Malignant Neoplasms; Medicine; Mission; Names; Nematoda; Online Systems; Orthologous Gene; Other Genetics; Patients; Phenotype; Rare Diseases; Registries; Research; Research Personnel; Research Project Grants; Research Project Summaries; Resources; Running; Science; Scientist; Series; Services; Site; System; Technology; Therapeutic; Therapeutic Human Experimentation; Therapeutic Intervention; Time; Translational Research; Update; Variant; Visit; WormBase; XenBase; Zebrafish; application programming interface; base; bioinformatics tool; clinical research site; college; data integration; design; disease diagnosis; disease registry; experience; gene conservation; gene function; genetic variant; genome resource; genome sequencing; improved; in vivo; informatics tool; information display; information model; interest; model organisms databases; network models; personalized medicine; programs; rare variant; screening; tool; web portal; web site; web-accessible

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.

标题：整合MARRVEL和ModelMatcher，促进未诊断疾病研究 项目概述：罕见病患者经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为这些病例中的约30%提供答案，但许多病例 通常只剩下少数候选遗传变异，需要实验性后续研究来确定 因果关系除了对临床研究中心和研究中心确定的候选变体进行功能研究外， 未诊断疾病网络（UDN）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UDN的总体使命。过去四 多年来，我们一直在开发一个生物信息学工具MARRVEL，收集和显示重要的数据， 基于分散在网络上的各种数据库进行罕见变异分析所必需的， 个性化医疗此外，MOSC刚刚建立并启动了一个集中的协作登记册， 科学家称之为ModelMatcher，可供临床医生和其他未确诊疾病的利益相关者使用 研究（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 对合作感兴趣的科学家，以促进诊断，转化和治疗研究。 虽然MARRVEL和ModelMatcher都是宝贵的资源，但两者都是建立在不同的基础上的。 由于技术原因，这些服务之间目前没有串扰。在本项目中， 我们将修改和升级MARRVEL和ModelMatcher，通过广泛连接两个网站， 通过更新在线门户和开发API（应用程序）， 编程接口）。完成后，MARRVEL用户将能够即时识别科学家 他们正在积极研究模式生物中的特定基因，ModelMatcher用户将能够收集 来自不同人类数据库和各种模型的关于其感兴趣基因的综合信息 当他们搜索注册表时。这两个独一无二的网站的整合 通过UDN的支持开发的技术不仅会对罕见和未诊断的研究产生巨大影响， 疾病，但将刺激信息交流和合作的基因参与常见疾病， 以及包括癌症在内的其他遗传疾病。最后，新开发的API将允许其他数据库 计算访问存储在ModelMatcher和MARRVEL中的信息，进一步促进协作 在国际上和多个科学和临床学科中。