A new way to find hidden, tissue-based mutations that can cause cancer or developmental problems
A reference-free computational algorithm for comprehensive somatic mosaic mutation detection
This project is making a computer tool to find rare, hidden mutations in body tissues that can contribute to cancer and developmental conditions.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Utah State Higher Education System--University of Utah NIH-funded |
| Lab location | 1 site (Salt Lake City, United States) |
| Project ID | NIH-11380870 on NIH RePORTER |
What this research studies
Researchers are building a reference-free computational algorithm that reads DNA sequencing data from many human tissues to find somatic mosaic mutations across the whole genome. The tool focuses on spotting very low-frequency changes and larger structural mutations that existing methods often miss. They will test the method on diverse tissue datasets and help create an atlas describing how these hidden mutations appear in healthy and disease contexts. The goal is to improve detection accuracy so future diagnostics and research can better link mosaic mutations to patient health.
Who could benefit from this research
Good fit: People with cancer, unexplained developmental disorders, or anyone willing to donate blood or tissue samples for genomic sequencing would be most relevant.
Not a fit: Patients whose conditions have no suspected genetic component or who will not undergo genomic testing are unlikely to see direct short-term benefits.
Why it matters
Potential benefit: If successful, this could help clinicians and researchers detect hidden mutations earlier and more reliably, improving diagnosis and informing targeted care.
How similar studies have performed: Existing tools can find some somatic mosaic mutations but often miss large or very-low-frequency events, so this work builds on prior progress while aiming to detect harder-to-find variants.
Where this research is happening
Salt Lake City, United States
- Utah State Higher Education System--University of Utah — Salt Lake City, United States (Active)
Researchers
- Principal investigator: Marth, Gabor T — Utah State Higher Education System--University of Utah
- Study coordinator: Marth, Gabor T
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.