U24HG011025
Cooperative Agreement
Overview
Grant Description
Empirical Validation of GA4GH's Data Use Ontology with NIH Datasets' Data Use Limitations - Project Summary
The goal of this project is to validate the Global Alliance for Genomics and Health (GA4GH) Data Use Ontology (DUO) using >700 NIH datasets to inform its use in scaling data sharing. The DUO was developed to provide a standard vocabulary for describing permitted secondary uses of genomic data. By standardizing data use language globally, the DUO expedites data sharing compliant with participants’ consent and ethical and legal regulations.
As the largest public funder of biomedical research in the world, NIH’s Database of Genotypes and Phenotypes (dbGaP) holds over 7,582 datasets on over 330,000 variables available via dbGaP as of March 2021. This makes the NIH-funded datasets housed in dbGaP an ideal test case for the validation of the DUO.
In this project, we will work with NIH Data Access Committees (DACs) to align their datasets’ existing Data Use Limitations (DULs) with data use terms from the DUO. As a result, we will identify which DULs and DUO terms have parity and where gaps exist between the two, and discuss if and how to address the gaps with DACs.
We aim to summarize these key findings and recommendations in a formal publication, following on the initial DUO validation of 120 datasets at the Broad Institute, and via a communication to GA4GH Data Use & Research Identities Work Stream leadership (of which Mr. Lawson is a member) for their consideration in evolving the DUO.
Thereafter, we will advance discussions with the NIH DACs to ensure all NIH DULs can be mapped to machine-readable term(s) in the DUO. Once completed through either adjustments to the DUO, the NIH DULs, or both, we will tag all datasets with the appropriate DUO terms in the Broad Institute’s Data Use Oversight System (DUOS) dataset catalog.
The DUOS dataset catalog will be upgraded to query datasets’ by their permitted data use (e.g., DULs) so that researchers are able to filter out datasets they likely will not be approved to access. The DUOS’ decision-support algorithm will match the DUO terms on access requests to the DUO terms on the dbGaP datasets. DUOS will use this to automatically triage requests and propose a decision to grant access or not that can easily be reviewed by DACs.
With the DUL inputs accurately calibrated and their functionality enabled in DUOS, the NIH DACs and Office of Science Policy would be well-positioned to codify their Data Access Request (DAR) review policy into DUOS’ decision support algorithm. This would enable automated decisions on DARs for typical requests and significantly reduce the burden on DACs and DAR turnaround time to researchers.
The goal of this project is to validate the Global Alliance for Genomics and Health (GA4GH) Data Use Ontology (DUO) using >700 NIH datasets to inform its use in scaling data sharing. The DUO was developed to provide a standard vocabulary for describing permitted secondary uses of genomic data. By standardizing data use language globally, the DUO expedites data sharing compliant with participants’ consent and ethical and legal regulations.
As the largest public funder of biomedical research in the world, NIH’s Database of Genotypes and Phenotypes (dbGaP) holds over 7,582 datasets on over 330,000 variables available via dbGaP as of March 2021. This makes the NIH-funded datasets housed in dbGaP an ideal test case for the validation of the DUO.
In this project, we will work with NIH Data Access Committees (DACs) to align their datasets’ existing Data Use Limitations (DULs) with data use terms from the DUO. As a result, we will identify which DULs and DUO terms have parity and where gaps exist between the two, and discuss if and how to address the gaps with DACs.
We aim to summarize these key findings and recommendations in a formal publication, following on the initial DUO validation of 120 datasets at the Broad Institute, and via a communication to GA4GH Data Use & Research Identities Work Stream leadership (of which Mr. Lawson is a member) for their consideration in evolving the DUO.
Thereafter, we will advance discussions with the NIH DACs to ensure all NIH DULs can be mapped to machine-readable term(s) in the DUO. Once completed through either adjustments to the DUO, the NIH DULs, or both, we will tag all datasets with the appropriate DUO terms in the Broad Institute’s Data Use Oversight System (DUOS) dataset catalog.
The DUOS dataset catalog will be upgraded to query datasets’ by their permitted data use (e.g., DULs) so that researchers are able to filter out datasets they likely will not be approved to access. The DUOS’ decision-support algorithm will match the DUO terms on access requests to the DUO terms on the dbGaP datasets. DUOS will use this to automatically triage requests and propose a decision to grant access or not that can easily be reviewed by DACs.
With the DUL inputs accurately calibrated and their functionality enabled in DUOS, the NIH DACs and Office of Science Policy would be well-positioned to codify their Data Access Request (DAR) review policy into DUOS’ decision support algorithm. This would enable automated decisions on DARs for typical requests and significantly reduce the burden on DACs and DAR turnaround time to researchers.
Awardee
Funding Goals
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.
Grant Program (CFDA)
Awarding Agency
Place of Performance
Cambridge,
Massachusetts
021421023
United States
Geographic Scope
Single Zip Code
Related Opportunity
Analysis Notes
Amendment Since initial award the total obligations have increased 2198% from $300,000 to $6,892,586.
The Broad Institute was awarded
Empirical Validation of GA4GH's Data Use Ontology with NIH Datasets
Cooperative Agreement U24HG011025
worth $6,892,586
from the National Institute of Allergy and Infectious Diseases in August 2021 with work to be completed primarily in Cambridge Massachusetts United States.
The grant
has a duration of 4 years 5 months and
was awarded through assistance program 93.310 Trans-NIH Research Support.
The Cooperative Agreement was awarded through grant opportunity Genomic Community Resources (U24).
Status
(Ongoing)
Last Modified 5/5/25
Period of Performance
8/3/21
Start Date
1/31/26
End Date
Funding Split
$6.9M
Federal Obligation
$0.0
Non-Federal Obligation
$6.9M
Total Obligated
Activity Timeline
Subgrant Awards
Disclosed subgrants for U24HG011025
Transaction History
Modifications to U24HG011025
Additional Detail
Award ID FAIN
U24HG011025
SAI Number
U24HG011025-3733460586
Award ID URI
SAI UNAVAILABLE
Awardee Classifications
Nonprofit With 501(c)(3) IRS Status (Other Than An Institution Of Higher Education)
Awarding Office
75N400 NIH National Human Genome Research Institute
Funding Office
75NA00 NIH OFFICE OF THE DIRECTOR
Awardee UEI
H5G9NWEFHXN4
Awardee CAGE
5BP51
Performance District
MA-07
Senators
Edward Markey
Elizabeth Warren
Elizabeth Warren
Budget Funding
| Federal Account | Budget Subfunction | Object Class | Total | Percentage |
|---|---|---|---|---|
| National Human Genome Research Institute, National Institutes of Health, Health and Human Services (075-0891) | Health research and training | Grants, subsidies, and contributions (41.0) | $903,196 | 31% |
| National Cancer Institute, National Institutes of Health, Health and Human Services (075-0849) | Health research and training | Grants, subsidies, and contributions (41.0) | $600,000 | 21% |
| National Heart, Lung, and Blood Institute, National Institutes of Health, Health and Human Services (075-0872) | Health research and training | Grants, subsidies, and contributions (41.0) | $600,000 | 21% |
| Office of the Director, National Institutes of Health, Health and Human Services (075-0846) | Health research and training | Grants, subsidies, and contributions (41.0) | $500,000 | 17% |
| NIH Innovation, CURES Act, National Institutes of Health, Health and Human Services (075-5628) | Health research and training | Grants, subsidies, and contributions (41.0) | $300,000 | 10% |
Modified: 5/5/25