How genes make different RNA messages in people
Computational Methods to Characterize Alternative Splicing and Genetic Determinants from Heterogeneous Sequence Data
This project creates easy-to-use computer tools to read complex RNA patterns from patient sequencing data so scientists can link alternative splicing to health and disease.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project ID | NIH-11251582 on NIH RePORTER |
What this research studies
Researchers will build software that reads RNA sequencing from many technologies, including short reads, long reads, and single-cell data. They will combine clinical and genetic information from large patient groups to find how splicing differs between people and in disease. The team will model the regulatory 'code' that controls splicing and predict which genetic changes alter splicing. The tools will be made user-friendly so other scientists and clinicians can apply them to patient data.
Who could benefit from this research
Good fit: Ideal participants are people who have donated tissue or blood samples and had RNA or genetic sequencing, or patients enrolled in large clinical or population genomics studies that share sequencing data.
Not a fit: People without genetic or RNA sequencing data, or whose conditions are unlikely to involve splicing changes, may not receive direct benefit from this project.
Why it matters
Potential benefit: If successful, this work could reveal new causes of disease, improve genetic diagnoses, and point to targets for more precise treatments.
How similar studies have performed: Related computational analyses and early long-read sequencing projects have shown promise, but integrating short, long, and single-cell data for population-scale splicing prediction remains largely novel.
Where this research is happening
Baltimore, United States
- Johns Hopkins University — Baltimore, United States (Active)
Researchers
- Principal investigator: Florea, Liliana D — Johns Hopkins University
- Study coordinator: Florea, Liliana D
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.