Using whole-genome sequencing to predict genetic risks for diseases
Official title: Leveraging biobank-scale whole-genome sequencing for polygenic risk prediction
Funded at Brigham and Women's Hospital · NIH-10930983 · Data updated 2026-11-12
This study is looking at genetic information from large groups of people to better understand how different genes can affect the risk of inherited diseases, helping doctors create more personalized prevention and treatment plans for patients like you.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Brigham and Women's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | September 18, 2023 |
| Project end | July 31, 2027 |
| Funding year | 2024 |
| Award (this year) | $438,550 |
| NIH project number | 5R01HG013110-02 |
| Project ID | NIH-10930983 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with a family history of heritable diseases or those interested in understanding their genetic risk factors.
✕Less likely to help
Patients with no known genetic predisposition to heritable diseases may not receive significant benefits from this research.
What this research studies
This research focuses on analyzing whole-genome sequencing data from large population biobanks to enhance the prediction of genetic risks associated with heritable diseases. By developing new statistical methods, the project aims to include a wider range of genetic variants, such as structural variants and rare mutations, which have previously been overlooked. This approach seeks to improve the accuracy of genetic risk models, ultimately aiding in personalized medicine by informing preventative and therapeutic strategies for patients. Participants may contribute to the understanding of how their genetic makeup influences disease risk.
Why it matters
Potential benefit: If successful, this research could lead to more accurate predictions of disease risk, allowing for tailored prevention and treatment strategies for patients.
How similar studies have gone: Previous research has shown promise in using whole-genome sequencing for genetic risk prediction, indicating that this approach could lead to significant advancements in the field.
Where this research is happening
-
Brigham and Women's Hospital
Boston, United States Active
Researchers
- Principal investigator: Loh, Po-Ru — Brigham and Women's Hospital
- Study coordinator: Loh, Po-Ru
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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.