Mapping the full range of human genome structure variations
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-11627257 · Data updated 2026-11-12
Researchers are building better maps of the big and small differences in human DNA to improve precision medicine.
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) | $58,001 |
| NIH project number | 3U24HG007497-12S3 |
| Project ID | NIH-11627257 on NIH RePORTER |
Who could benefit from this research
✓Could help
This research builds foundational resources that could benefit people with genetic conditions, including autistic disorder, by improving genomic interpretation.
✕Less likely to help
Direct clinical benefit to patients is not immediate; the work focuses on creating resources and tools for future translational studies.
What this research studies
This project develops new computational methods to find and assemble complex structural variations in the human genome using long-read sequencing data. It will apply these methods to a large set of diverse genomes to create a comprehensive, accessible resource. The effort aims to improve how we detect difficult regions and genotype structural variants across populations, which may inform future clinical genetics and personalized care.
Why it matters
Potential benefit: A more complete understanding of human genetic variation could lead to better diagnosis and treatment of genetic conditions in the future.
How similar studies have gone: Previous studies have shown that integrating multiple sequencing technologies improves discovery of structural variants and genome assemblies.
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
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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.