Production Core

生产核心

• 批准号: 9359634
• 负责人: HEIDI L REHM
• 金额: $ 163.6万
• 依托单位: BRIGHAM AND WOMEN'S HOSPITAL
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/9359634
• 关键词: Adoption; Alleles; Area; Biotechnology; Clinical; Clinical Research; Communication; Communities; Computer software; Confusion; Consumption; Data; Databases; Deposition; Development; Disease; Electronic Health Record; Environment; Funding; Genes; Genetic; Genetic screening method; Genome; Genomic medicine; Genomics; Goals; Health; Health Surveys; Health system; Healthcare; Human; Human Genetics; Human Genome Project; Individual; Knowledge; Laboratories; Link; Medical Genetics; Methods; Modeling; Molecular Medicine; Online Mendelian Inheritance In Man; Participant; Pathogenicity; Patient Care; Patients; Process; Production; Public Domains; Recruitment Activity; Registries; Research Infrastructure; Research Personnel; Resolution; Resources; Site; Standardization; Structure; System; Test Result; Testing; Time; Training; United States National Institutes of Health; Update; Variant; Work; clinical care; clinically actionable; data exchange; data modeling; data sharing; design; experience; feeding; gene discovery; genetic variant; genomic data; genomic variation; health data; improved; informatics infrastructure; knowledge base; novel; open source; outreach; patient registry; phenotypic data; statistics; tool; user-friendly; working group

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.

项目摘要 尽管自从人类遗传学领域的知识以来已经大大增加了 人类基因组项目，我们仍然没有完全了解基因组的所有方式 差异有助于人类健康和疾病。 链接的U41应用程序继续支持临床基因组资源（Clingen; www.clinicalgenome.org）。 所有利益相关者都将基因组和健康INTA沉积到公共领域，包括 患者，临床医生，实验室和研究人员，开发方法和信息学 基础架构到答案的关键问题（策展），并创建基因组 使此信息获得的知识基础社区富裕患者 关心。 数据共享，2）基因和变体解释的标准化方法，3）软件 以及支持和增强解释的信息基础架构，4）以社区为导向的 策划和解释的敌方，以及5）揭幕，以最大化粘林的影响 资源。为公众提供高质量的基因组变体数据 根据我们在第一笔资金中开发的标准，经验和基础设施 时期。 捕获生成数百万个遗传测序测试的临床级解释 通过常规患者临床护理。 解释将继续提交并可以通过我们的工艺访问 在本地生物技术信息中心（NCBI）中使用Clinvar数据库。 我们还将通过表型数据集体帮助基因组数据 GenoMeconnect，Clingen的患者注册表，针对接受基因检测的个体。 克林根（Clingen）将分享基因组和健康信息批判性问题 关于基因/疾病临床有效性围绕临床有效性的人类健康和疾病的相关性 关联，变异的致病性和临床可行性。 （CDWG）和专家小组（EP）将使疾病专家能够策划一组基因和 作为克林根项目的一部分，遵循的变体。 Clingen knoledge基地可广泛使用 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 到 通过基因组医学提高患者护理的质量。