Improving genetic risk scores by using variant interpretation tools
Systematic integration of variant interpretation tools into genetic and genomic risk prediction
['FUNDING_R01'] · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · NIH-11285449
This project works to make genetic test results more accurate and easier to understand for people with genetic testing by combining tools that judge whether DNA changes are harmful.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI (nih funded) |
| Locations | 1 site (NEW YORK, UNITED STATES) |
| Trial ID | NIH-11285449 on ClinicalTrials.gov |
What this research studies
You can expect researchers to take existing computer tools that predict whether a DNA change is harmful and recalibrate them so they match gene-specific and clinical risk measures. They will build new risk scores that include rare exome variants and combine these with standard genomic risk models. The team will test these methods using real genetic data and clinical terminology to produce risk estimates that clinicians can use. If the methods work, the results should lead to clearer and more consistent risk reports for patients and their doctors.
Who could benefit from this research
Good fit: People who have had genetic testing or whole-exome/genome sequencing, or who carry rare genetic variants, would be most likely to benefit or participate.
Not a fit: People without genetic testing or whose conditions are not driven by genetic variation may not see direct benefits from this work.
Why it matters
Potential benefit: Patients could receive clearer, more accurate genetic risk estimates that better reflect the impact of rare DNA changes.
How similar studies have performed: Tools that predict whether variants are harmful are already used in clinical genetics, but using them to generate individual-level risk scores is relatively new and not yet widely proven.
Where this research is happening
NEW YORK, UNITED STATES
- ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI — NEW YORK, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: PEJAVER, VIKAS RAO — ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
- Study coordinator: PEJAVER, VIKAS RAO
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.