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: 10606182
• 负责人: JONATHAN S BERG
• 金额: $ 37.27万
• 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/10606182
• 关键词: Address; Advocate; Area; Attention; Award; 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; Parents; 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 from Parent Award 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/家长奖摘要