Advanced genome and transcriptome analysis with long-read sequencing
Official title: Advanced genome and transcriptome analysis using long-read sequencing technologies
Funded at University of Virginia · NIH-11591256 · Data updated 2026-11-12
A researcher at a university is using long-read DNA and RNA sequencing to map complete genomes and transcriptomes for individuals to understand how genetic variations relate to disease risk.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Virginia NIH-funded |
| Lab location | 1 site (Charlottesville, United States) |
| Project start | July 7, 2020 |
| Project end | April 30, 2030 |
| Funding year | 2026 |
| Award (this year) | $352,141 |
| NIH project number | 7R35GM138212-08 |
| Project ID | NIH-11591256 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with suspected genetic susceptibility to complex diseases who could benefit from deeper genomic and transcriptomic insights.
✕Less likely to help
Individuals without or with non-genetic causes of disease may not experience direct benefit.
What this research studies
This project focuses on developing and applying long-read sequencing and new computational methods to assemble haplotype-resolved, telomere-to-telomere genomes and to analyze transcriptomes. By capturing complex structural variants, multi-allelic copy number changes, and transcriptome rearrangements, it aims to link genomic features to disease susceptibility. The work will create personalized genome annotations and explore how variations influence health and disease. Results could enable more precise genetic diagnoses and family-based risk assessments in the future.
Why it matters
Potential benefit: If successful, the work could improve understanding of how individual genomes contribute to disease risk and inform personalized diagnostics and prevention strategies.
How similar studies have gone: Prior long-read sequencing efforts have shown improved detection of structural variations and complex rearrangements, with growing traction in personalized genomics.
Where this research is happening
-
University of Virginia
Charlottesville, United States Active
Researchers
- Principal investigator: Chong, Zechen — University of Virginia
- Study coordinator: Chong, Zechen
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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.