The Clinical Genome Resource – Advancing genomic medicine through biocuration and expert assessment of genes and variants at scale

临床基因组资源 — 通过大规模基因和变异的生物管理和专家评估推进基因组医学

• 批准号: 10472668
• 负责人: JONATHAN S BERG
• 金额: $ 467.99万
• 依托单位: UNIV OF NORTH CAROLINA CHAPEL HILL
• 依托单位国家: 美国
• 财政年份: 2017
• 资助国家: 美国
• 起止时间: 2017-09-12 至 2026-06-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10472668
• 关键词: Address; Advocate; Area; Attention; Basic Science; Bioinformatics; Caring; Clinical; Clinical Sciences; Clinical assessments; Collaborations; Communities; Data; Data Aggregation; Data Set; Data Sources; Diagnostic; Disease; Disease Management; Documentation; Education and Outreach; Electronic Health Record; Ensure; Etiology; Evaluation; Feedback; Funding; Genetic; Genetic Counseling; Genetic Diseases; Genetic Variation; Genome; Genomic medicine; Genomics; Goals; Health; Health Benefit; Health Personnel; Healthcare; Human; Human Genetics; Human Genome; International; Knowledge; Laboratories; Medical Genetics; Methods; Mission; Molecular Genetics; National Human Genome Research Institute; Natural History; Natural Language Processing; Needs Assessment; Online Systems; Pathogenicity; Patient Care; Patients; Persons; Phase; Process; Production; Productivity; Program Evaluation; Provider; Public Health; Reproducibility; Research; Research Personnel; Resources; Rewards; Scientist; Source; Speed; Structure; System; Technology; Training; Translational Research; Trust; United States National Institutes of Health; Variant; Work; adjudicate; annotation system; clinical care; clinical practice; clinically actionable; clinically relevant; computerized tools; crowdsourcing; data modeling; data standards; diverse data; evidence base; genetic resource; genetic variant; genome resource; improved; innovation; interoperability; knowledge base; medical specialties; novel; novel strategies; online resource; outreach; recruit; skills; tool; translational genomics; volunteer; workforce needs

Project Summary/Abstract High-quality evidence about clinically relevant genes and variants is a fundamental cornerstone of genomic medicine. All aspects of clinical care derive from accurate information about the etiology, natural history, and management of disease. With genomic analysis becoming more routine for patient care, the public availability of well-curated and expertly adjudicated knowledge about genes and variants is critical. The ClinGen Resource represents a highly collaborative effort of the genetics community to establish an evidence-based resource for the assessment of the clinical relevance of genes and variants that is readily accessible to (and trusted by) diagnostic laboratories, providers, and patients. Our objective is to improve patient care through enhanced and accelerated curation of the clinical genome using innovative approaches to overcome challenges and address new topics. We will accomplish this objective through the concerted pursuit of the following aims: aggregation of structured evidence regarding genetic conditions and the genes and variants that cause them; application of frameworks for expert curation of clinical validity, variant pathogenicity, and clinical actionability of genetic conditions; broad dissemination of tools, standards, knowledge bases, and assertions about clinically relevant genes and variants; and evaluation of all aspects of this work, so that we can improve the quality and impact of the resource for implementation of transparent, reproducible, and evidence-based genomic medicine. The proposal is innovative in several ways. It will aggregate data produced by cutting edge technologies, adapt annotation tools to enable crowdsourcing through community curation, and apply advanced natural language processing for annotation so that human curators can function at the top of their skill level. It will leverage the participation of a large and enthusiastic community of volunteers, thus acting as a force multiplier for the NIH funded teams. It will engage advocates who can conduct outreach within their areas of specialty, to further extend the reach of ClinGen products into genomic medicine research and clinical care. It will transform a wide range of clinical and basic science data into well-structured, transparently referenced expert assertions with documentation of provenance and attention to ensuring the interoperability of the resource with diverse end- users, including electronic health records. The proposed resource project is significant because in its entirety it will improve, scale, and disseminate the freely available expert curation and interpretation of the human genome to the global genomics community with the goal of improving health care for all people.

项目概要/摘要 关于临床相关基因和变异的高质量证据是基因组学的基本基石 药品。临床护理的各个方面都源自有关病因、自然史和疾病的准确信息。 疾病管理。随着基因组分析在患者护理中变得越来越常规，公众的可用性 关于基因和变异的精心策划和专业判断的知识至关重要。临床资源 代表了遗传学界的高度合作努力，为建立基于证据的资源 对易于获取（并被信任）的基因和变异的临床相关性的评估 诊断实验室、提供者和患者。我们的目标是通过增强和改善患者护理 使用创新方法加速临床基因组的管理，以克服挑战并解决问题 新话题。我们将通过共同追求以下目标来实现这一目标： 有关遗传条件以及导致这些条件的基因和变异的结构化证据；应用 遗传的临床有效性、变异致病性和临床可操作性的专家管理框架 状况;广泛传播工具、标准、知识库和临床相关断言 基因和变异；并对这项工作的各个方面进行评估，以便我们提高工作的质量和影响 用于实施透明、可重复和循证基因组医学的资源。这 该提案在多个方面具有创新性。它将汇总由尖端技术产生的数据，适应 注释工具，通过社区管理实现众包，并应用高级自然语言 注释处理，以便人类策展人能够发挥其最高技能水平。它将利用 大量热情志愿者的参与，从而成为 NIH 的力量倍增器 资助的团队。它将吸引能够在其专业领域内开展外展活动的倡导者，以进一步 将 ClinGen 产品的范围扩展到基因组医学研究和临床护理。它将改变广泛 将一系列临床和基础科学数据转化为结构良好、透明引用的专家断言 记录来源并注意确保资源与不同终端的互操作性 用户，包括电子健康记录。拟议的资源项目意义重大，因为从整体上看， 将改进、扩展和传播免费提供的专家对人类的管理和解释 基因组向全球基因组学界提供服务，其目标是改善所有人的医疗保健。