The clinical genome resource ? Advancing genomic medicine through biocuration and expert assessment of genes and variants at scale
Active Cooperative Agreement Awarded Last action
- Award ID
- U24HG009650
- Recipient
-
University Of North Carolina At Chapel Hill UEI D3LHU66KBLD5 Part of University Of North Carolina System Office
- Awarding agency
-
National Human Genome Research Institute
National Institutes of Health, Department of Health and Human Services
- Obligated
- $70,392,645
Award facts
- Assistance listing
- 93.172 Human Genome Research
- Completion date 93% complete
- Originally
- Funding
-
- $65,726,655.10 Federal
- $4,665,990.00 Non-federal
- Place of performance
- Chapel Hill, NC 27599, USA
Award details come from USAspending.gov.
Description
- 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.
Transactions
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| Amendment | $4,665,990 | $0 | |
| Original award | $4,665,990 | $4,665,990 |
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Subawards
| Subrecipient | Amount | Awarded |
|---|---|---|
| The Medical College Of Wisconsin, Inc. | $49,717 | |
| Geisinger Clinic | $48,329 | |
| The Washington University | $239,399 | |
| Mayo Clinic | $338,303 | |
| Georgetown University | $687,818 | |
| Massachusetts Eye And Ear Infirmary | $318,658 | |
| Research Triangle Institute International, LLC | $1,053,784 | |
| Baylor College Of Medicine | $319,992 | |
| Arup Laboratories Inc. | $399,994 | |
| Kaiser Foundation Hospitals | $3,721,923 | |
| University Of Miami | $349,419 | |
| Acmg Foundation For Genetic And Genomic Medicine | $3,106,612 |
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Quick answers
Who received award U24HG009650?
U24HG009650 was awarded to University Of North Carolina At Chapel Hill by National Human Genome Research Institute (National Institutes of Health) on September 12, 2017.
How much is award U24HG009650 worth?
$70,392,645 has been obligated on U24HG009650: $65,726,655 in federal funding and $4,665,990 in non-federal funding.
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