# Discovering and Analyzing Development and Age-Associated CNAs in the All of Us Cohort

> **NIH NIH R03** · MAYO CLINIC ROCHESTER · 2024 · $145,260

## Abstract

Abstract
 Genomic variants in an individual may be either inherited (i.e., transmitted through the germline) or
generated by mutagenesis in post-zygotic cells, which results in no two cells in any individual having the same
genome. Clonal hematopoiesis is the phenomenon of age-related outgrowth of somatic clones in the blood. Such
an outgrowth has been associated with increased all-cause mortality, risk of blood cancer and cardiovascular
diseases but reduced risks of Alzheimer’s disease. In the proposed project we will discover and analyze somatic
CNVs using whole genome sequencing (WGS) data in the All of Us cohort. We will apply CNVpytor to all All of
Us WGS data to discover somatic CNVs and provide discovered CNVs as a resource to researchers in the All
of Us Researcher Workbench. The resource will include a tiered list of CNVs, processed and small sized files
for instant manual inspection of CNVs, and documentation and video tutorial with examples how to access,
inspect, analyze and visualize the discovered CNVs in IGV. Additionally, we will include stratification of CNV
types (i.e., deletions, duplications, LOHs) by age, defining their likely age of occurrence, determining their precise
breakpoints, and analyzing sequences at the breakpoints to reveal their likely origin. Completing the described
project will result in a large-scale assessment of somatic CNVs in the blood of individuals in the All of Us cohort
and will provide a new insight into the etiology of such somatic CNVs. The developed methodologies can be
applied to data generated in the future, as All of Us expands the collection of samples.
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## Key facts

- **NIH application ID:** 10930955
- **Project number:** 5R03AG085705-02
- **Recipient organization:** MAYO CLINIC ROCHESTER
- **Principal Investigator:** ALEXEJ ABYZOV
- **Activity code:** R03 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $145,260
- **Award type:** 5
- **Project period:** 2023-09-20 → 2026-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10930955

## Citation

> US National Institutes of Health, RePORTER application 10930955, Discovering and Analyzing Development and Age-Associated CNAs in the All of Us Cohort (5R03AG085705-02). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10930955. Licensed CC0.

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