Predicting how genetic variants affect function and disease traits
Official title: Predictive Modeling of the Functional and Phenotypic Impacts of Genetic Variants
Funded at Univ of Massachusetts Med Sch Worcester · NIH-11532512 · Data updated 2026-11-12
Aims to build computer models that predict how genetic differences influence biology and disease traits, using large genomic datasets.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of Massachusetts Med Sch Worcester NIH-funded |
| Lab location | 1 site (Worcester, United States) |
| Project start | August 20, 2021 |
| Project end | May 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $652,396 |
| NIH project number | 3U01HG012064-05S1 |
| Project ID | NIH-11532512 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are individuals whose genetic data will be analyzed in collaboration with biobanks or who may benefit from improved interpretation of genetic variants.
✕Less likely to help
Patients not involved in genetic studies or not contributing data may see limited direct benefit.
What this research studies
This project uses computer models to map how genomic variants change regulatory elements and gene links, informed by open chromatin data and single-cell profiles. The team will create a public portal to share results, methods, and tools so researchers and clinicians can access predictions. The work focuses on translating vast genomic information into usable insights for understanding and potentially guiding patient care. It leverages existing biobanks and GWAS data to prioritize variants for further study.
Why it matters
Potential benefit: If successful, the models could help identify which genetic variants are most likely to affect health, guiding future diagnostics and personalized treatments.
How similar studies have gone: Previous studies have shown that computational models can predict functional effects of variants, with growing accuracy as more data become available.
Where this research is happening
-
Univ of Massachusetts Med Sch Worcester
Worcester, United States Active
Researchers
- Principal investigator: Weng, Zhiping — Univ of Massachusetts Med Sch Worcester
- Study coordinator: Weng, Zhiping
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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.