Mapping the full spectrum of human genetic variation 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-11586136 · Data updated 2026-11-12
A large-scale effort to map complex structural genetic differences across diverse populations to help doctors better understand how genomes contribute to autism and other conditions.
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, 2028 |
| Funding year | 2026 |
| Award (this year) | $1,742,633 |
| NIH project number | 7U24HG007497-12 |
| Project ID | NIH-11586136 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with autistic disorder or related developmental differences who participate in genomic studies or have their DNA analyzed as part of precision medicine efforts.
✕Less likely to help
Not all genetic variations will have immediate clinical implications for every patient.
What this research studies
This project aims to improve how we detect and catalog big and small DNA changes across the whole genome, especially in difficult regions. It will use multiple advanced sequencing technologies and new analysis tools to build highly complete genome maps. Researchers will apply these methods to hundreds of samples from diverse populations to ensure broad applicability. The work will create resources and pipelines that other scientists can use to study genetic factors in autism and related traits.
Why it matters
Potential benefit: If successful, it could lead to more accurate genetic diagnoses and a better understanding of how structural variations influence autism and related conditions.
How similar studies have gone: Previous advances in long-read sequencing and genome assembly have substantially improved SV detection, with growing use in diverse populations.
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.