Award
National Human Genome Research Institute 3U01HG011967-05S1
Design, prediction, and prioritization of systematic perturbations of the human genome
Recipient
Duke University, Durham, NC, United States
Award Amount
$665,995.00
Ceiling
$665,995.00
Awarded
June 05, 2026
Identifier
3U01HG011967-05S1
This award supports the development of analytic tools and machine learning methods to annotate noncoding genetic variation, identify functional constraints, and prioritize variants for pathogenicity to improve understanding and treatment of genetic diseases.
Description
The project aims to develop analytic approaches and tools for the routine annotation of noncoding genetic variation for functionality and pathogenicity. It involves establishing best practices in perturbation assay design, developing machine learning approaches for predicting functional effects of noncoding variation, and identifying noncoding regions under functional constraint to prioritize variants for pathogenicity. The outcomes will include optimized experimental design parameters, a machine learning method for interaction detection among genomic variants, and a framework for interpreting variation within patient genomes.