Finding large genetic changes across sequencing platforms using AI
Cross-platform structural variant discovery with deep learning
['FUNDING_R01'] · BROAD INSTITUTE, INC. · NIH-11145180
This project uses artificial intelligence to find large changes in people's DNA that can contribute to conditions like Alzheimer's disease, autism, and autoimmune disorders.
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-11145180 on ClinicalTrials.gov |
What this research studies
The team is building deep learning tools to read whole-genome sequencing data from different technologies and detect structural variants — large insertions, deletions, and rearrangements in DNA. They train models on raw sequencing signals rather than hand-crafted rules, benchmark performance across platforms, and aim to uncover variant types missed by current methods. The work primarily uses existing human genomic data and computational experiments at the Broad Institute. Improvements could make genetic findings more reliable for research and clinical use.
Who could benefit from this research
Good fit: People who have had whole-genome sequencing or who are willing to share their genomic data, especially those with Alzheimer's, autism spectrum disorder, or autoimmune conditions, would be most relevant to this work.
Not a fit: Patients without an underlying genetic cause for their condition or those who cannot or do not share genomic data may not see direct benefits from this project.
Why it matters
Potential benefit: If successful, this work could make it easier to find disease-related genetic changes, improving genetic diagnosis and helping guide future personalized care.
How similar studies have performed: Deep learning has recently improved many genomic tasks, but applying it broadly and reliably to structural variant discovery is a relatively new area still under active development.
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