Understanding the full spectrum of structural genetic variation in human genomes
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-11627138 · Data updated 2026-11-12
Scientists are improving how we detect complex DNA changes across many human genomes to advance 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) | $197,050 |
| NIH project number | 3U24HG007497-12S2 |
| Project ID | NIH-11627138 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are individuals whose health may be affected by structural genome variations and who could contribute genetic samples or participate in future studies.
✕Less likely to help
People not affected by or not contributing to studies of structural genome variations may not directly benefit.
What this research studies
This project works on better tools and methods to find and map large genetic differences that standard techniques often miss. It uses advanced sequencing data from diverse populations to create more complete, phased genome assemblies. The goal is to make it easier for researchers to understand how structural variations contribute to health and disease, including conditions like autism, by providing a robust resource for the scientific community. The effort combines multiple technologies and develops new analysis pipelines to enable faster, cheaper, and more accurate SV discovery and genotyping.
Why it matters
Potential benefit: If successful, this work could enhance our understanding of how complex genetic changes influence health and disease, potentially informing future diagnostics and therapies.
How similar studies have gone: Previous efforts have shown progress in discovering and cataloging structural variants, with this project expanding coverage and accuracy.
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.