Production Core

项目总结 尽管人类遗传学领域的知识自 人类基因组计划，我们仍然不完全了解基因组 变异有助于人类的健康和疾病。这项提案代表了三项建议之一 链接U41应用程序以继续支持临床基因组资源(Clingen； Www.Clinicalgenome.org)。克莱根项目的主要目标是支持 所有利益攸关方将基因组和健康数据存入公有领域，包括 患者、临床医生、实验室和研究人员开发方法和信息学 基础架构以回答数据的关键问题(管理)，并创建基因组 使此信息可供社区使用以改善患者状况的知识库 关心。我们将该提案组织为五个首要目标，以实现克莱根的目标：1) 数据共享，2)解释基因和变异的标准化方法，3)软件 和信息基础设施，以支持和增强口译，4)社区驱动 努力进行策划和口译，以及5)开展外联活动，以最大限度地扩大克莱根的影响 资源。为了向公众提供高质量的基因组变异数据，我们将建立 根据我们在第一次融资期间制定的标准、经验和基础设施 句号。我们将利用我们与临床实验室的合作关系来 捕获生成的数百万个基因测序测试的临床级解释 通过常规的病人临床护理过程。所有的基因组变异和它们的 解释将继续提交给我们的伙伴关系，并通过我们的伙伴关系提供 与NIH国家生物技术信息中心(NCBI)内的ClinVar数据库进行了比较。 我们还将帮助用通过以下方式收集的表型数据来增强基因组数据 GenomeConnect，Clingen为接受过基因测试的个人提供的患者登记簿。 克莱根将使用这些共享的基因组和健康信息来回答关键问题 关于围绕基因/疾病的临床有效性与人类健康和疾病的相关性 相关性、变异致病性和临床可操作性。临床领域工作组 (CDWG)和专家小组(EP)将使疾病专家能够管理一组基因和 作为Clingen项目的一部分而开发的方法的变体。最后，我们将使 广泛提供的Clingen知识库 开发“临床医生友好”的用户界面 并通过新开发的Clingen EHR应用程序支持自动EHR更新 至 通过基因组医学提高患者护理质量。

PROJECT SUMMARY Although knowledge in the field of human genetics has greatly increased since the time of the Human Genome Project, we still do not fully understand all of the ways in which genomic variation contributes to human health and disease. This proposal represents one of three linked U41 applications to continue support for the Clinical Genome Resource (ClinGen; www.clinicalgenome.org). The main goals of the ClinGen project are to support the deposition of genomic and health data into the public domain by all stakeholders, including patients, clinicians, laboratories, and researchers, develop methods and an informatics infrastructure to answer critical questions of the data (curation), and create a genomic knowledge base that makes this information available to the community for improved patient care. We have structured this proposal into five overarching aims to meet ClinGen's goals: 1) data sharing, 2) standardized approaches to interpretation of genes and variants, 3) software and informatics infrastructure to support and enhance interpretation, 4) community-driven efforts for curation and interpretation, and 5) outreach to maximize the impact of the ClinGen resource. To make high-quality genomic variant data available to the public, we will build upon the standards, experience and infrastructure we have developed during our first funding period. We will capitalize on our collaborative relationships with clinical laboratories to capture the clinical-grade interpretations of millions of genetic sequencing tests generated through the course of routine patient clinical care. All genomic variants and their interpretations will continue to be submitted to and made accessible through our partnership with the ClinVar database within NIH's National Center for Biotechnology Information (NCBI). We will also help to augment the genomic data with phenotype data collected through GenomeConnect, ClinGen's patient registry for individuals who have had genetic testing. ClinGen will use this shared genomic and health information to answer critical questions regarding relevance to human health and disease around clinical validity for gene/disease associations, variant pathogenicity and clinical actionability. Clinical Domain Working Groups (CDWG) and Expert Panels (EP) will enable disease experts to curate sets of genes and variants following approaches developed as part of the ClinGen project. Finally, we will make the ClinGen knowledge base widely available by developing “clinician-friendly” user interfaces and supporting automatic EHR updates through the newly developed ClinGen EHR App to improve the quality of patient care through genomic medicine.