Thursday, July 31, 2025 7/31/2025

Center for Critical Assessment of Genome Interpretation

Award Number: U24HG007346
ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
OPDIV: NIH
AWARD CLASS: COOPERATIVE AGREEMENT
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 05/13/2015
PERIOD OF PERFORMANCE END DATE: 05/31/2026

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Center for Critical Assessment of Genome Interpretation - Genomic data hold the promise of revolutionizing our understanding and treatment of human disease. Multiple barriers stand between the acquisition of the data and realizing these and other benefits. Rapid accumulation of genomic data far exceeds our capacity to reliably interpret genomic variation. New developments in artificial intelligence and machine learning, combined with increased computing power and domain knowledge, provide hope for the deployment of enhanced computational tools in both basic research and clinical practice. Use of these methods critically depends upon reliable characterization of their performance. The Center for Critical Assessment of Genome Interpretation (C-CAGI) will address these needs, through objective evaluation of the state of the art in relating human genetic variation and health. CAGI has had five editions since 2010 with 50 challenges posed to the community taken on by hundreds of predictors, leading to scores of publications about prediction methods and their assessment. We propose for C-CAGI to continue to advance the field of variant interpretation through the following Specific Aims: 1. Develop community experiments to evaluate the quality of computational methods for interpreting genomic variation data. C-CAGI will conduct community experiments in which participants make bona fide blinded predictions of disease related phenotypes on the basis of genomic data. We will engage a diverse predictor community to spur innovation. The CAGI Ethics Forum will vet studies to ensure that privacy and sharing maintain the highest standards and will educate the community. 2. Assess the quality of current computational methods for interpreting genomic variation data; highlight innovations and progress at interactive conferences. Predictions will be evaluated by independent assessors, who will be supported by new assessment approaches from C-CAGI. Results will be presented at CAGI experiment conferences with deep technical engagement, which will be interleaved with reflective CAGIâ meetings that create an environment for a comprehensive evaluation of the field, facilitating identification of major bottlenecks and problems faced by the current genome interpretation approaches. 3. Broadly disseminate the results and conclusions from the CAGI experiments and analysis. C-CAGI will outreach to the broader scientific and clinical community through its publications, and the creation of a calibrated reference integrated into the most common workflows for ready adoption. CAGI will also be represented at international meetings with presentations and workshops. 4. Operate effectively and responsively. C-CAGI will operate efficiently as it closely interacts with hundreds of participants. CAGI will build upon a robust information infrastructure that securely facilitates data dissemination, prediction submission, and assessment.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2025 ( Subtotal = $750,521 )
2025	2025	REGENTS OF THE UNIVERSITY OF CALIFORNIA, THE	1608 4TH ST STE 201	BERKELEY	CA	94710	ALAMEDA	USA	Human Genome Research	002	8	7/25/2025	NON-COMPETING CONTINUATION	$0
2025	2025	REGENTS OF THE UNIVERSITY OF CALIFORNIA, THE	1608 4TH ST STE 201	BERKELEY	CA	94710	ALAMEDA	USA	Human Genome Research	001	8	7/11/2025	NON-COMPETING CONTINUATION	$750,521
2025	2024	REGENTS OF THE UNIVERSITY OF CALIFORNIA, THE	1608 4TH ST STE 201	BERKELEY	CA	94710	ALAMEDA	USA	Human Genome Research	000	7	11/18/2024	NON-COMPETING CONTINUATION	$0
														Subtotal = $750,521

Issue Date FY: 2024 ( Subtotal = $737,937 )
2024	2024	REGENTS OF THE UNIVERSITY OF CALIFORNIA, THE	1608 4TH ST STE 201	BERKELEY	CA	94710	ALAMEDA	USA	Human Genome Research	001	7	8/14/2024	NON-COMPETING CONTINUATION	$737,937
2024	2022	REGENTS OF THE UNIVERSITY OF CALIFORNIA, THE	1608 4TH ST STE 201	BERKELEY	CA	94710	ALAMEDA	USA	Human Genome Research	000	6	3/1/2024	NON-COMPETING CONTINUATION	$0
														Subtotal = $737,937

Issue Date FY: 2023 ( Subtotal = $0 )
2023	2022	REGENTS OF THE UNIVERSITY OF CALIFORNIA, THE	1608 4TH ST STE 201	BERKELEY	CA	94710	ALAMEDA	USA	Human Genome Research	000	6	3/31/2023	NON-COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2022 ( Subtotal = $752,995 )
2022	2022	REGENTS OF THE UNIVERSITY OF CALIFORNIA, THE	1608 4TH ST STE 201	BERKELEY	CA	94710	ALAMEDA	USA	Human Genome Research	000	6	5/27/2022	NON-COMPETING CONTINUATION	$752,995
2022	2022	REGENTS OF THE UNIVERSITY OF CALIFORNIA, THE	1608 4TH ST STE 201	BERKELEY	CA	94710	ALAMEDA	USA	Human Genome Research	001	6	6/15/2022	NON-COMPETING CONTINUATION	$0
														Subtotal = $752,995

Issue Date FY: 2021 ( Subtotal = $751,940 )
2021	2021	REGENTS OF THE UNIVERSITY OF CALIFORNIA, THE	1608 4TH ST STE 220	BERKELEY	CA	94710	ALAMEDA	USA	Human Genome Research	002	5	7/22/2021	NON-COMPETING CONTINUATION	$751,933
2021	2020	REGENTS OF THE UNIVERSITY OF CALIFORNIA, THE	1608 4TH ST STE 201	BERKELEY	CA	94710	ALAMEDA	USA	Human Genome Research	000	4	11/12/2020	COMPETING CONTINUATION	$7
2021	2020	REGENTS OF THE UNIVERSITY OF CALIFORNIA, THE	1608 4TH ST STE 220	BERKELEY	CA	94710	ALAMEDA	USA	Human Genome Research	001	4	3/25/2021	COMPETING CONTINUATION	$0
														Subtotal = $751,940

Issue Date FY: 2020 ( Subtotal = $793,449 )
2020	2020	REGENTS OF THE UNIVERSITY OF CALIFORNIA, THE	1608 4TH ST STE 220	BERKELEY	CA	94710	ALAMEDA	USA	Human Genome Research	000	4	6/3/2020	COMPETING CONTINUATION	$793,449
														Subtotal = $793,449

Grand Total All Awards = $3,786,842

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Center for Critical Assessment of Genome Interpretation

Award Number: U24HG007346

ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE

OPDIV: NIH

AWARD CLASS: COOPERATIVE AGREEMENT

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 05/13/2015

PERIOD OF PERFORMANCE END DATE: 05/31/2026

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