Identifying and analyzing genetic mutations in human tissues using advanced sequencing techniques.
Detection and Characterization of Somatic Mutations in Human Tissue Utilizing Duplex-Consensus Sequencing
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 ID | NIH-11134505 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with conditions related to somatic mutations, particularly those affecting aging or specific tissue types.
Not a fit: Patients with no known genetic mutations or those not affected by conditions related to somatic mutations may not benefit from this research.
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 performed: 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, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Choudhury, Sangita — Boston Children's Hospital
- Study coordinator: Choudhury, Sangita
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 below.