High-accuracy detection of DNA changes in human tissues using duplex sequencing
Detection and Characterization of Somatic Mutations in Human Tissue Utilizing Duplex-Consensus Sequencing
This project builds a highly accurate DNA method to find rare cell-level mutations in human tissues across the lifespan.
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-11329074 on NIH RePORTER |
What this research studies
If you take part, researchers will refine a lab method called Tn5-duplex-seq that reads both strands of individual DNA molecules to spot tiny, rare mutations with very low error rates. They plan to make the method work on small samples, pooled cells, or bulk tissue so it can be faster and less costly than current single-cell tests. The team will optimize both the wet-lab steps and the computational analysis to retain single-molecule information at scale. Results will contribute to a shared catalog of somatic mutations across tissues and ages to help researchers understand how these mutations arise and change over time.
Who could benefit from this research
Good fit: Ideal participants are people willing to donate tissue or blood samples (including samples from different ages or disease groups) or to allow use of existing human samples for advanced DNA analysis.
Not a fit: Patients seeking immediate medical treatment are unlikely to benefit directly, because the project focuses on developing laboratory methods and mutation catalogs rather than providing therapies.
Why it matters
Potential benefit: If successful, this could give doctors and researchers clearer maps of hidden DNA changes that drive aging and disease, helping enable earlier detection and more targeted future treatments.
How similar studies have performed: Duplex sequencing and related single-cell methods have demonstrated very high accuracy in prior work (including META-CS), but making them cost-effective and scalable for pooled or bulk samples remains novel and under optimization.
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.