University of Washington (UW) Mendelian Genomics Data Coordinating Center

华盛顿大学 (UW) 孟德尔基因组数据协调中心

• 批准号: 10415150
• 负责人: Susanne May
• 金额: $ 294.4万
• 依托单位: UNIVERSITY OF WASHINGTON
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-06-01 至 2026-03-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10415150
• 关键词: Adherence; Authorship; Award; Bioethics; Biological; Biometry; Candidate Disease Gene; ClinVar; Collaborations; Communication; Communities; Complex; Data; Data Coordinating Center; Data Science; Deposition; Diagnosis; Diagnostic; Disease; Education and Outreach; Ensure; FAIR principles; Family; Funding; Funding Opportunities; Genes; Genetic; Genetic Research; Genome; Genomics; Group Meetings; Health Benefit; Human Genetics; Incentives; International; Knowledge; Lead; Logistics; Medical Genetics; Mendelian disorder; Mentorship; Methodology; National Human Genome Research Institute; Persons; Phenotype; Play; Policies; Procedures; Process; Public Health; Quality Control; Reporting; Research; Research Personnel; Resources; Rest; Surveys; Syndrome; System; Time; Training; Training and Education; United States National Institutes of Health; Universities; Untranslated RNA; Validation; Variant; Washington; Work; base; causal variant; cloud based; cohort; data sharing; data standards; data submission; exome sequencing; experience; experimental study; follow-up; genetic variant; genome sequencing; genomic data; innovation; insight; meetings; member; molecular phenotype; novel; outreach; outreach program; phenotypic data; programs; rare variant; repository; success; virtual; web site; whole genome; working group

PROJECT SUMMARY Despite significant advances made in understanding the genetic basis of the more than 10,000 estimated Mendelian conditions in recent decades, further scientific collaboration and discovery is required to identify the full set of Mendelian diseases and their underlying genetic causes. To build on the success of the Centers for Mendelian Genomics by using further technological, methodological, and data-sharing innovations, NHGRI is establishing a new Mendelian Genomics Research Consortium. As Data Coordinating Center for this Consortium, we propose to further the discovery and characterization of Mendelian conditions by achieving four main aims. (1) Managing the release of molecular and phenotypic data generated or collected by the Consortium's Research Centers, featuring semi-automated and scalable quality control procedures that will validate incoming data against collaboratively-established standards and requirements. We will facilitate data sharing within the Consortium and the broader scientific community by ensuring that curated data are submitted to appropriate repositories including AnVIL, ClinVar, and Matchmaker Exchange. (2) Supporting program outreach through a Consortium website that highlights program progress and discoveries and enabling connections among researchers, clinicians, and families. We will also oversee education, training, and mentorship opportunities. (3) Coordinating logistics for the Consortium, including organization of virtual and in-person meetings and administrative support for all Consortium-wide activities. (4) Overseeing an Opportunity Fund, administering up to 5 awards in each of years 2-5 of the Consortium, to support novel and scalable approaches to functional follow-up on candidate variants. To achieve these four main aims, we propose innovative approaches, including leveraging emerging cloud-based systems for the storage and analysis of human genetic data and integrating international data sharing standards to ensure that data is findable, accessible, interoperable, and reusable (FAIR). Furthermore, we bring a unique blend of expertise across the fields of data science, cloud systems, biostatistics, bioethics, clinical genetics, and Mendelian discovery to the Consortium, and our application rests on 13 successful years of experience and expertise serving as Coordinating or Analysis Centers for 7 large-scale genetic and biomedical projects. Through support and coordination of this Consortium, we will help yield the benefits of identifying the genetic basis of Mendelian conditions to support diagnosis, therapy, and further delineation of syndromes. Further public health benefit will accrue via biological insights into Mendelian diseases that also advance our understanding of related common, complex diseases.

项目摘要 尽管在理解10,000多个估计的遗传基础方面取得了重大进展 孟德尔的条件近几十年来，需要进一步的科学合作和发现来确定 全套孟德尔疾病及其潜在的遗传原因。以中心的成功为基础 Mendelian基因组学通过使用进一步的技术，方法论和数据共享创新，NHGRI是 建立一个新的Mendelian基因组学研究联盟。作为数据协调中心 财团，我们建议通过实现Mendelian条件的发现和表征 四个主要目标。 （1）管理由或收集的分子和表型数据的释放 财团的研究中心，具有半自动且可扩展的质量控制程序 根据协作建立的标准和要求验证传入的数据。我们将促进数据 通过确保精选的数据为 提交给适当的存储库，包括Anvil，Clinvar和Matchmaker Exchange。 （2）支持 通过财团网站进行计划宣传，该网站突出了计划的进度和发现， 使研究人员，临床医生和家庭之间的联系。我们还将监督教育，培训， 和指导机会。 （3）协调财团的物流，包括虚拟组织 以及针对所有财团活动的面对面会议和行政支持。 （4）监督 机会基金，在财团的2 - 5年中最多可授予5个奖项，以支持小说和 可扩展的方法对候选变体的功能随访。为了实现这四个主要目标，我们 提出创新的方法，包括利用新兴云的系统进行存储和 分析人类遗传数据并整合国际数据共享标准，以确保数据是 可找到，可访问，可互操作和可重复使用（公平）。此外，我们带来了独特的专业知识 在数据科学，云系统，生物阶层，生物伦理学，临床遗传学和门德利的整个领域 发现财团的发现，我们的申请取决于13年成功的经验和专业知识 作为7个大型遗传和生物医学项目的协调或分析中心。通过支持 和该财团的协调，我们将有助于识别孟德尔人的遗传基础的好处 支持诊断，治疗和进一步描述综合症的疾病。进一步的公共卫生益处将 通过对孟德尔疾病的生物学见解，这些疾病也提高了我们对相关共同的理解， 复杂的疾病。