Using whole-genome sequencing to predict genetic risks for diseases
Leveraging biobank-scale whole-genome sequencing for polygenic risk prediction
['FUNDING_R01'] · BRIGHAM AND WOMEN'S HOSPITAL · NIH-10930983
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
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | BRIGHAM AND WOMEN'S HOSPITAL (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-10930983 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with a family history of heritable diseases or those interested in understanding their genetic risk factors.
Not a fit: Patients with no known genetic predisposition to heritable diseases may not receive significant benefits from this research.
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 performed: 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
BOSTON, UNITED STATES
- 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
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.
Conditions: Cardiovascular Diseases