Whole-genome-based genetic risk scores for heart disease
Leveraging biobank-scale whole-genome sequencing for polygenic risk prediction
This project will build better genetic risk scores using whole-genome data to help predict a person's chance of developing heart and blood-related conditions.
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 ID | NIH-11158925 on NIH RePORTER |
What this research studies
As a patient, this means researchers will analyze whole-genome sequences from large biobanks to capture rare DNA changes, structural variants, and blood-derived mutations that older tests missed. They will develop new computer algorithms to find hard-to-detect variants and new statistical methods to combine all variant types into one risk score. The team will train and test these models using high-coverage whole-genome data and compare results to older SNP-array based scores. The goal is to make genetic risk predictions for cardiovascular disease more accurate and useful for prevention and treatment planning.
Who could benefit from this research
Good fit: Adults whose DNA is held in large biobanks or who have a personal or family history of cardiovascular disease are the most likely candidates to benefit from these improved risk scores.
Not a fit: People whose heart problems are driven entirely by non-genetic factors or who lack relevant genetic data in biobanks may not see direct benefit from this work.
Why it matters
Potential benefit: If successful, patients could receive more accurate DNA-based risk estimates for cardiovascular disease that better guide prevention and treatment choices.
How similar studies have performed: Previous studies have shown that polygenic scores using common genetic variants can predict cardiovascular risk to some extent, but adding rare, structural, and somatic variants is a newer and less-tested approach.
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.