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Bayesian estimation of gene effects on traits from coding variants

Award Number: R01HG014005
ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 05/09/2025
PERIOD OF PERFORMANCE END DATE: 02/28/2029

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Bayesian estimation of gene effects on traits from coding variants - Abstract One central goal of human genetics is to determine the key genes and molecular pathways that drive disease. By doing so, we can hope to gain deeper insight into the molecular basis of disease, as well as to identify potential targets for therapeutic intervention. While GWAS has identiﬁed tens of thousands of signiﬁcant, robust associations, the results do not provide a straightforward assessment of the potential importance of each gene. As an alternative, we propose to develop new techniques for using rare protein-coding variants including loss- of-function mutations, deletions, and duplications in burden tests. We will use these to estimate the magnitude and direction of effect of each gene on a phenotype of interest, across the full range of expression encompassed by natural variation. In order to improve accuracy, since tests at single genes are often underpowered, we will extend a machine learning approach we developed previously called GeneBayes to share information among similar genes within a hierarchical Bayesian framework. We will release open access software and summary statistics to maximize the value of our work to the scientiﬁc community.


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: 2026 ( Subtotal = $654,734 )
2026	2026	THE LELAND STANFORD JUNIOR UNIVERSITY	450 JANE STANFORD WAY	STANFORD	CA	94305	SANTA CLARA	USA	Human Genome Research	000	2	3/9/2026	NON-COMPETING CONTINUATION	$654,734
														Subtotal = $654,734

Issue Date FY: 2025 ( Subtotal = $666,831 )
2025	2025	THE LELAND STANFORD JUNIOR UNIVERSITY	450 JANE STANFORD WAY	STANFORD	CA	94305	SANTA CLARA	USA	Human Genome Research	000	1	5/9/2025	NEW	$666,831
														Subtotal = $666,831

Grand Total All Awards = $1,321,565

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Bayesian estimation of gene effects on traits from coding variants

Award Number: R01HG014005

ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 05/09/2025

PERIOD OF PERFORMANCE END DATE: 02/28/2029

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