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: 10270142
• 负责人: JONATHAN S BERG
• 金额: $ 466.6万
• 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/10270142
• 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; 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.

项目摘要/摘要 关于临床相关基因和变体的高质量证据是基因组的基石 药品。临床护理的各个方面均来自有关病因，自然史和 疾病管理。随着基因组分析的越来越常规的患者护理，公众可用性 关于基因和变体的经过精心策划和熟练裁决的知识至关重要。克林根资源 代表了遗传学社区的高度协作努力，以建立基于证据的资源 评估基因和变体的临床相关性，这些基因和变体很容易被（并信任） 诊断实验室，提供者和患者。我们的目标是通过增强和 使用创新方法来克服挑战并解决临床基因组的加速策划 新主题。我们将通过共同追求以下目标来实现这一目标：汇总 有关遗传条件以及引起它们的基因和变异的结构性证据；应用 用于临床有效性，变异性致病性和遗传起作用的专家策划的框架 状况;关于临床相关的工具，标准，知识基础和主张的广泛传播 基因和变体；并评估这项工作的各个方面，以便我们可以提高 实施透明，可重复和循证基因组医学的资源。这 提案在几种方面具有创新性。它将汇总尖端技术生产的数据，适应 注释工具可以通过社区策划来促进众包，并应用高级自然语言 处理注释，以便人类策展人可以在其技能水平的顶部发挥作用。它将利用 大型志愿者社区的参与，因此充当NIH的力量乘数 资助的团队。它将参与可以在其专业领域内进行宣传的拥护者，以进一步 将克林根产品的覆盖范围扩展到基因组医学研究和临床护理中。它将变化 一系列临床和基础科学数据范围为结构良好，透明地引用的专家主张 出处和关注的记录，以确保资源的互操作性不同 用户，包括电子健康记录。拟议的资源项目很重要，因为它的整体 将改善，扩展和传播人类的免费专家策划和解释 全球基因组学界的基因组，目的是改善所有人的医疗保健。