Using deep learning to find genetic variations linked to diseases
Cross-platform structural variant discovery with deep learning
['FUNDING_R01'] · BROAD INSTITUTE, INC. · NIH-10873957
This study is looking at how to find important changes in our genes that can affect health, using smart computer techniques to help uncover these changes better, which could lead to more personalized treatments for patients.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | BROAD INSTITUTE, INC. (nih funded) |
| Locations | 1 site (CAMBRIDGE, UNITED STATES) |
| Trial ID | NIH-10873957 on ClinicalTrials.gov |
What this research studies
This research focuses on identifying structural variants (SVs) in the human genome, which are crucial for understanding genetic diversity and disease. By utilizing advanced deep learning techniques, the project aims to improve the discovery of SVs from genomic data, overcoming limitations of current methods that rely on specific sequencing technologies. Patients may benefit from more accurate genetic insights that can inform personalized medicine and treatment strategies. The research will analyze vast amounts of genomic data to uncover hidden patterns and associations with various diseases.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with genetic conditions such as Alzheimer's disease or autism spectrum disorders.
Not a fit: Patients without genetic conditions or those not affected by the diseases being studied may not receive direct benefits from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and treatment options for genetic diseases, including Alzheimer's and autism.
How similar studies have performed: Other research has shown promising results using deep learning for genetic analysis, indicating potential for success in this novel approach.
Where this research is happening
CAMBRIDGE, UNITED STATES
- BROAD INSTITUTE, INC. — CAMBRIDGE, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: POPIC, VICTORIA — BROAD INSTITUTE, INC.
- Study coordinator: POPIC, VICTORIA
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: Alzheimer disease dementia, Alzheimer syndrome, Alzheimer's Disease, Autistic Disorder, Autoimmune Diseases