U24HG009650

The Clinical Genome Resource - Advancing Genomic Medicine through Biocuration and Expert Assessment of Genes and Variants at Scale - 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:

1. Aggregation of structured evidence regarding genetic conditions and the genes and variants that cause them.
2. Application of frameworks for expert curation of clinical validity, variant pathogenicity, and clinical actionability of genetic conditions.
3. Broad dissemination of tools, standards, knowledge bases, and assertions about clinically relevant genes and variants.
4. 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 healthcare for all people.

University Of North Carolina At Chapel Hill

NHGRI SUPPORTS THE DEVELOPMENT OF RESOURCES AND TECHNOLOGIES THAT WILL ACCELERATE GENOME RESEARCH AND ITS APPLICATION TO HUMAN HEALTH AND GENOMIC MEDICINE. A CRITICAL PART OF THE NHGRI MISSION CONTINUES TO BE THE STUDY OF THE ETHICAL, LEGAL AND SOCIAL IMPLICATIONS (ELSI) OF GENOME RESEARCH. NHGRI ALSO SUPPORTS THE TRAINING AND CAREER DEVELOPMENT OF INVESTIGATORS AND THE DISSEMINATION OF GENOME INFORMATION TO THE PUBLIC AND TO HEALTH PROFESSIONALS. THE SMALL BUSINESS INNOVATION RESEARCH (SBIR) PROGRAM IS USED TO INCREASE PRIVATE SECTOR COMMERCIALIZATION OF INNOVATIONS DERIVED FROM FEDERAL RESEARCH AND DEVELOPMENT, TO INCREASE SMALL BUSINESS PARTICIPATION IN FEDERAL RESEARCH AND DEVELOPMENT, AND TO FOSTER AND ENCOURAGE PARTICIPATION OF SOCIALLY AND ECONOMICALLY DISADVANTAGED SMALL BUSINESS CONCERNS AND WOMEN-OWNED SMALL BUSINESS CONCERNS IN TECHNOLOGICAL INNOVATION. THE SMALL BUSINESS TECHNOLOGY TRANSFER (STTR) PROGRAM IS USED TO FOSTER SCIENTIFIC AND TECHNOLOGICAL INNOVATION THROUGH COOPERATIVE RESEARCH AND DEVELOPMENT CARRIED OUT BETWEEN SMALL BUSINESS CONCERNS AND RESEARCH INSTITUTIONS, TO FOSTER TECHNOLOGY TRANSFER BETWEEN SMALL BUSINESS CONCERNS AND RESEARCH INSTITUTIONS, TO INCREASE PRIVATE SECTOR COMMERCIALIZATION OF INNOVATIONS DERIVED FROM FEDERAL RESEARCH AND DEVELOPMENT, AND TO FOSTER AND ENCOURAGE PARTICIPATION OF SOCIALLY AND ECONOMICALLY DISADVANTAGED SMALL BUSINESS CONCERNS AND WOMEN-OWNED SMALL BUSINESS CONCERNS IN TECHNOLOGICAL INNOVATION.

93.172 - Human Genome Research

National Human Genome Research Institute (NHGRI) [HHS - NIH]

Chapel Hill, North Carolina 27599 United States

Single Zip Code

Genomic Community Resources (U24 Clinical Trial Not Allowed) (PAR-20-100)

Amendment Since initial award the total obligations have increased 435% from $4,665,990 to $24,964,130.