Improving genetic risk prediction using advanced tools for variant interpretation
Systematic integration of variant interpretation tools into genetic and genomic risk prediction
['FUNDING_R01'] · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · NIH-11053528
This study is working on improving how doctors predict the risks of genetic conditions by using smart computer tools to better understand if certain genetic changes are harmful or not, so they can make more accurate decisions for patients like you.
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-11053528 on ClinicalTrials.gov |
What this research studies
This research focuses on enhancing the accuracy of genetic and genomic risk predictions by integrating advanced machine learning tools that assess whether genetic variants are harmful or benign. The project aims to develop methods that allow these tools to be effectively used in clinical settings, ensuring that rare genetic variants are accurately accounted for in risk assessments. By calibrating existing predictors and creating new risk scores, the research seeks to improve the clinical decision-making process for patients with genetic conditions.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals undergoing genetic testing for rare diseases or those with a family history of genetic conditions.
Not a fit: Patients without any genetic predisposition to diseases or those not undergoing genetic testing may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate predictions of disease risk for patients based on their genetic information.
How similar studies have performed: Previous research has shown promise in using machine learning for genetic variant interpretation, indicating that this approach could lead to significant advancements in clinical applications.
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.