Genome Technologies Coordinating Center

项目总结 NHGRI的基因组技术组合包含了大量多样化的科学方法和 目标，从仪器开发到技术的高通量应用，再到表征 表型性状的基因组基础。这些研究工作产生了对生物学和 疾病，但仍有许多机会加速创新、发展和早期传播 基因组技术。基因组技术协调中心(GTCC)的目标是最大化这些 通过联系受赠人和NHGRI计划工作人员、管理研究资金和开发 支持和吹捧基因组技术计划卓越的教育资源。我们建议 以下旨在实现这些目标：1)促进基因组技术计划和 促进有助于实现计划目标的标准。我们将主办和支持世界银行年会。 基因组技术和CEGS计划。我们亦会在受资助人之间成立工作小组，以推广 合作建设和制定基因组技术的衡量标准和标准。我们将使用这些 工作组将查明该领域的差距，为机会基金的募集奠定基础。 2)建立和管理机会基金计划，以支持有前景的新项目的初步开发 技术和想法。这些机会基金将作为试点项目(早期阶段或证明)进行分配 原则研究)和发展项目(具有支持性初步数据的相对先进的研究) 在2-4年级。同行审查将由一个由基因组技术专家组成的外部审查小组进行。3) 开展社区外展活动，提高人们对基因组技术计划成功的认识 并为科学界提供便利。我们将开发和管理一个教育和外展 由受赠人和教育专家组成的工作组，以确定发展领域并确定优先事项 获取教育材料，并主持和宣传一个网站来分发这些材料。有针对性的努力将是 旨在让科学领域中未得到充分代表和服务的人群了解 基因组技术计划。与技术转让和智力有关的信息资源 将为受赠人开发物业。杰克逊实验室(JAX)是唯一有资格担任 基因组技术计划的GTCC。实验室已经有90多年的历史来支持 哺乳动物遗传学研究，包括通过提供广泛使用的信息资源(例如小鼠 基因组信息学)和教育计划，包括每年一次的实验模型短期课程 人类癌症(29年)和麦库西克关于人类和哺乳动物遗传学和基因组学的短期课程 (近60年)。杰克逊基因组医学实验室成立于2012年，旨在应用该实验室的 在基因组学和技术开发方面的专业知识，以改进基于基因组的医学。

PROJECT SUMMARY The Genome Technology portfolio at NHGRI encompasses a substantial diversity of scientific approaches and objectives, from instrumentation development to high-throughput application of technologies to characterizing the genomic basis for phenotypic traits. These research efforts have produced significant insight into biology and disease, and yet there are many opportunities to accelerate innovation, development, and early dissemination of genomic technologies. The goal of the Genome Technology Coordinating Center (GTCC) is to maximize these opportunities by liaising grantees and NHGRI Program Staff, managing research funds, and developing educational resources to support and tout the excellence of the Genome Technology program. We propose the following aims to meet these goals: 1) Facilitate collaborations across the Genome Technology Program and promote standards that aid in achieving Program goals. We will host and support Annual meetings for the Genome Technology and CEGS programs. We will also develop Working Groups among grantees to promote collaboration-building and the development of metrics and standards for genomic technologies. We will use these Working Groups to identify gaps in the field that will provide the foundation for solicitation of Opportunity Funds. 2) Establish and manage an Opportunity Funds program to support initial development of promising new technologies and ideas. These Opportunity Funds will be distributed as pilot projects (early stage or proof-of- principle studies) and development projects (comparatively advanced studies with supportive preliminary data) in years 2-4. Peer review will be conducted by an External Review Panel of experts in genomic technology. 3) Implement community outreach activities to encourage awareness of Genome Technology Program successes and facilitate access by the scientific community. We will develop and manage an Education and Outreach Working Group composed of grantees and educational experts to identify and prioritize areas of development for educational materials, and host and advertise a website to distribute those materials. A targeted effort will be made to expose underrepresented and underserved populations in science to the advances and importance of the Genome Technology Program. Informational resources related to technology transfer and intellectual property will be developed for grantees. The Jackson Laboratory (JAX) is uniquely qualified to serve as the GTCC for the Genome Technology Program. The Laboratory has over ninety years of history in supporting mammalian genetics research including through the provision of widely used information resources (e.g. Mouse Genome Informatics) and educational programs including the Annual Short Course on Experimental Models of Human Cancer (29 years), and the McKusick Short Course on Human and Mammalian Genetics and Genomics (nearly 60 years). The Jackson Laboratory for Genomic Medicine was established in 2012 to apply the Lab’s expertise in genomics and technology development toward improvements in genome-based medicine.