Finding hidden short DNA repeat changes that can cause rare genetic conditions in children
Revealing new short tandem repeat variation in the human population across sequencing technologies: towards rare disease diagnosis and discovery
This project will build a public map of short DNA repeat differences using advanced sequencing to help diagnose children with rare genetic conditions.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Colorado Denver NIH-funded |
| Lab location | 1 site (Aurora, UNITED STATES) |
| Project ID | NIH-11163510 on NIH RePORTER |
What this research studies
Researchers will create a publicly available resource that shows how short tandem repeats (STRs) vary across different ancestries to help prioritize suspect repeat expansions. They will develop new computer methods to detect STRs from long-read Oxford Nanopore sequencing and combine those results with short-read approaches. The method finds informative reads by aligning them and identifying repetitive regions, then integrates evidence across multiple reads while accounting for technology-specific biases. The goal is to make it easier to find STR expansions that current tests often miss so more families can get answers.
Who could benefit from this research
Good fit: Children and families with suspected rare genetic disorders, particularly those who remain undiagnosed after standard genetic testing, are the most suitable candidates for benefit from this work.
Not a fit: People with non-genetic conditions or those whose diagnosis is already explained by variants detectable with current standard tests are unlikely to benefit directly.
Why it matters
Potential benefit: Could help more children with unexplained genetic symptoms get accurate diagnoses by detecting repeat expansions that standard tests miss.
How similar studies have performed: Some recent studies using long-read sequencing have successfully identified certain repeat expansions, but a comprehensive, ancestry-stratified population database for STRs remains novel.
Where this research is happening
Aurora, UNITED STATES
- University of Colorado Denver — Aurora, United States (Active)
Researchers
- Principal investigator: Dashnow, Harriet — University of Colorado Denver
- Study coordinator: Dashnow, Harriet
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.