A framework to characterize monogenic disease in founder populations using biobank-scale data
Active Project Grant Awarded Last action
- Award ID
- F32HG014400
- Recipient
-
Icahn School Of Medicine At Mount Sinai UEI C8H9CNG1VBD9
- Awarding agency
-
National Human Genome Research Institute
National Institutes of Health, Department of Health and Human Services
- Obligated
- $76,300
Award facts
- Assistance listing
- 93.172 Human Genome Research
- Completion date 0% complete
- Place of performance
- New York, NY 10029, USA
Award details come from USAspending.gov.
Description
- Abstract
- This project aims to identify and clinically characterize genetic drivers of monogenic diseases using biobank- scale data, overcoming limitations of traditional approaches by leveraging founder populations and advanced computational methods. The broad objective is to enhance the discovery and translation of monogenic disease variants into clinical practice. We propose a framework combining identity-by-descent (IBD) haplotype mapping and ancestral recombination graph (ARG) modeling to detect disease-associated genomic regions in founder populations, which are prevalent in cosmopolitan biobanks. This approach increases statistical power for rare variants and refines localization through evolutionary insights. In aim 1, we will develop scalable IBD-based pipelines and integrate ARG methods to generate an atlas of high-confidence haplotypes linked to monogenic disease. Aim 2 focuses on clinical validation, using exome sequencing, pathogenicity prediction, and electronic health record (EHR) phenotyping to confirm candidate variants. By integrating computational genetics with rigorous clinical characterization, this work will improve the identification of monogenic disease drivers, reduce diagnostic delays, and facilitate precision medicine applications. The methods developed will be broadly applicable to biobank-based genetic research.
Quick answers
Who received award F32HG014400?
F32HG014400 was awarded to Icahn School Of Medicine At Mount Sinai by National Human Genome Research Institute (National Institutes of Health) on November 17, 2026.
How much is award F32HG014400 worth?
$76,300 has been obligated on F32HG014400.
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