Bayesian estimation of gene effects on traits from coding variants

Active Project Grant Awarded Last action

Award ID
R01HG014005
Recipient
Awarding agency
Obligated
$1,321,565

Award facts

Assistance listing
93.172 Human Genome Research
Completion date 38% complete
Place of performance
Palo Alto, CA 94305, USA

Award details come from USAspending.gov.

Description

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.

Transactions

Action Obligated Date
Amendment $654,734
Original award $666,831

Quick answers

Who received award R01HG014005?

R01HG014005 was awarded to The Leland Stanford Junior University by National Human Genome Research Institute (National Institutes of Health) on May 9, 2025.

How much is award R01HG014005 worth?

$1,321,565 has been obligated on R01HG014005.

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