Identifying and analyzing genetic mutations in human tissues using advanced sequencing techniques.
Official title: Detection and Characterization of Somatic Mutations in Human Tissue Utilizing Duplex-Consensus Sequencing
Funded at Boston Children's Hospital · NIH-11134505 · Data updated 2026-11-12
This study is exploring a new way to look at genetic changes in human tissues to help us understand how these changes can affect health, which could lead to better ways to diagnose and treat different conditions.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | April 1, 2023 |
| Project end | March 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $711,998 |
| NIH project number | 4UH3NS132144-03 |
| Project ID | NIH-11134505 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with conditions related to somatic mutations, particularly those affecting aging or specific tissue types.
✕Less likely to help
Patients with no known genetic mutations or those not affected by conditions related to somatic mutations may not benefit from this research.
What this research studies
This research focuses on developing a new sequencing method to detect and characterize somatic mutations in human tissues. By utilizing a technique called Tn5-duplex sequencing, the study aims to capture detailed information about genetic changes at a single-molecule level, which can provide insights into how these mutations vary across different cell types and throughout a person's life. Patients may benefit from this research as it seeks to improve our understanding of genetic mutations that could influence various health conditions, potentially leading to better diagnostic and treatment options.
Why it matters
Potential benefit: If successful, this research could lead to more accurate detection of genetic mutations, improving diagnosis and treatment strategies for patients with various conditions.
How similar studies have gone: Previous research has successfully applied similar sequencing techniques to single cells, indicating a promising potential for this novel approach.
Where this research is happening
-
Boston Children's Hospital
Boston, United States Active
Researchers
- Principal investigator: Choudhury, Sangita — Boston Children's Hospital
- Study coordinator: Choudhury, Sangita
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About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.