Mapping all kinds of genetic differences in human genomes to improve precision medicine
Official title: Identifying and Characterizing the Full Spectrum of Haplotype-resolved Structural Variation in Human Genomes
Funded at University of Connecticut Sch of Med/dnt · NIH-11627084 · Data updated 2026-11-12
A national researchers team is creating better ways to find and understand big genetic differences in human DNA to help doctors tailor care.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Connecticut Sch of Med/dnt NIH-funded |
| Lab location | 1 site (Farmington, United States) |
| Project start | September 20, 2013 |
| Project end | March 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $121,257 |
| NIH project number | 3U24HG007497-12S1 |
| Project ID | NIH-11627084 on NIH RePORTER |
Who could benefit from this research
✓Could help
Any patient whose care could be informed by a deeper understanding of structural variation in the human genome, particularly in genomic regions that are hard to analyze.
✕Less likely to help
Individuals whose care does not rely on detailed structural variation information may see limited direct benefit.
What this research studies
This project focuses on improving methods to detect and assemble complex structural variations across human genomes using multiple sequencing technologies. It aims to apply these methods to a diverse set of 426 samples from the 1000 Genomes Project to build a more complete picture of human genetic variation. The work will produce data, computational tools, and pipelines that researchers can use to genotype structural variants quickly and affordably. The goal is to move toward richer genome resources that support precision medicine and broader scientific discovery.
Why it matters
Potential benefit: If successful, patients could benefit from more accurate genetic resources that support personalized diagnostics and treatments.
How similar studies have gone: Previous efforts have shown that integrating multiple technologies improves detection of complex structural variants, with growing success in building comprehensive genome references.
Where this research is happening
-
University of Connecticut Sch of Med/dnt
Farmington, United States Active
Researchers
- Principal investigator: Lee, Charles — University of Connecticut Sch of Med/dnt
- Study coordinator: Lee, Charles
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.