Finding cancer-related and disease-causing large DNA changes using thousands of genomes
Mining Thousands of Genomes to Classify Somatic and Pathogenic Structural Variants
This project creates a method that checks thousands of human genomes to help tell which large DNA changes are linked to cancer or rare genetic diseases.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Colorado NIH-funded |
| Lab location | 1 site (Boulder, UNITED STATES) |
| Project ID | NIH-11145731 on NIH RePORTER |
What this research studies
This project will develop a system called STIX that searches raw DNA sequencing alignments from thousands of people rather than relying on filtered variant lists. By looking for direct evidence of structural variants across many genomes, the team aims to separate common harmless changes from rare ones that may cause cancer or inherited disorders. The approach combines large-scale data mining and new algorithms to improve detection and classification of these large DNA changes. Better maps of how often and where these variants occur should help labs give clearer results for patient genomes.
Who could benefit from this research
Good fit: Ideal candidates are people with cancer or suspected rare genetic disorders who have had or are considering whole-genome sequencing and want clearer answers about large structural DNA changes.
Not a fit: Patients without genome sequencing data or whose conditions are unrelated to structural DNA variants may not see direct benefit from this work.
Why it matters
Potential benefit: If successful, this work could help doctors and genetic labs more accurately identify which large DNA changes are likely causing a patient's cancer or rare genetic disorder, reducing uncertain results and speeding diagnosis.
How similar studies have performed: Large population resources improved interpretation of single-letter DNA changes, but dynamically searching raw alignments across thousands of genomes for structural variants is a newer approach that is not yet widely proven.
Where this research is happening
Boulder, UNITED STATES
- University of Colorado — Boulder, United States (Active)
Researchers
- Principal investigator: Layer, Ryan M — University of Colorado
- Study coordinator: Layer, Ryan M
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.