Using machine learning to connect genes, biological function, and health
Supporting IGVF by modeling genetics, function, and phenotype with machine learning
This project uses AI to predict how genetic changes affect biology and health to help people with genetic conditions get clearer diagnoses and treatment options.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Northeastern University NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11093562 on NIH RePORTER |
What this research studies
From my perspective as a patient, the team trains advanced machine-learning models on human genomic data together with large-scale lab assays to predict how DNA changes alter molecular and tissue function. They link those predicted disruptions to clinical features and symptoms so genetic variants can be interpreted more accurately. The work combines computational modeling with experimental measurements and patient-derived data to make the predictions more reliable. The end goal is to give clinicians better tools for explaining test results and guiding care.
Who could benefit from this research
Good fit: Ideal candidates are people with unexplained genetic test findings, suspected hereditary conditions, or those willing to share genomic and health data to improve interpretation.
Not a fit: People whose illnesses are not caused by genetics or who cannot provide genomic or health data are less likely to see direct benefits.
Why it matters
Potential benefit: Could help doctors interpret genetic test results more accurately, leading to faster diagnoses and more personalized care.
How similar studies have performed: Past computational tools and variant databases have improved interpretation, but integrating large-scale experimental assays with modern machine learning is relatively new and still being refined.
Where this research is happening
Boston, United States
- Northeastern University — Boston, United States (Active)
Researchers
- Principal investigator: Radivojac, Predrag — Northeastern University
- Study coordinator: Radivojac, Predrag
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.