Predicting how genetic differences change cell function and health
Predictive Modeling of the Functional and Phenotypic Impacts of Genetic Variants
['FUNDING_U01'] · UNIV OF MASSACHUSETTS MED SCH WORCESTER · NIH-11100007
This project builds computer models to predict how people's genetic differences affect cellular activity and disease risk.
Quick facts
| Phase | ['FUNDING_U01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIV OF MASSACHUSETTS MED SCH WORCESTER (nih funded) |
| Locations | 1 site (WORCESTER, UNITED STATES) |
| Trial ID | NIH-11100007 on ClinicalTrials.gov |
What this research studies
Researchers are combining large whole-genome sequencing datasets and biobank records with laboratory functional data to teach computational models which DNA changes alter gene regulation. They will create a high-confidence map of regulatory elements, link those elements to the genes they control, and use single-cell and experimental datasets to make predictions that are specific to cell types and conditions. The team will run rare variant association tests and fine-map likely causal variants to prioritize which genetic changes matter for disease. All methods, models, and results will be shared publicly so clinicians and researchers can use them.
Who could benefit from this research
Good fit: People who have had whole-genome or exome sequencing, are enrolled in a biobank, or are willing to share genetic data or biosamples could potentially contribute data to this effort.
Not a fit: Individuals without genomic data or whose conditions are not influenced by genetic variation may not see direct benefit from this project.
Why it matters
Potential benefit: If successful, this work could make genetic test results easier to interpret and point to new targets for diagnosis or treatment.
How similar studies have performed: Previous computational tools have helped flag likely harmful mutations, but creating high-resolution, cell-type specific predictions across the whole genome is a newer approach still being validated.
Where this research is happening
WORCESTER, UNITED STATES
- 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
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 below.