Improving the human gene catalog
Exploring new approaches for enhanced human gene annotation
This project builds better computer tools to find and describe human genes and their RNA forms so researchers can more reliably study genetic causes of 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-11251239 on NIH RePORTER |
What this research studies
As a patient, this means researchers will use advanced computer methods to read and combine RNA sequencing data that shows which genes are active in different tissues, including diseased tissues. They will improve an existing tool called StringTie to merge short- and long-read sequencing data and to detect genes and transcript variants that have been missed. The team will analyze large public and clinical datasets to produce a more complete and accurate list of human genes and transcripts. A clearer gene map should make genetic research and testing more dependable over time.
Who could benefit from this research
Good fit: People with known or suspected genetic conditions who can share their tissue samples or sequencing data would be most relevant to this work.
Not a fit: People whose conditions are not related to genetics or who cannot provide samples or data are unlikely to see direct benefits from this project.
Why it matters
Potential benefit: A more complete and accurate gene catalog could help doctors and scientists identify genetic causes of illness faster and improve diagnosis and future treatments.
How similar studies have performed: Related computational approaches, including prior versions of StringTie, have improved gene and transcript discovery and are widely used, though a fully complete human gene catalog has not yet been achieved.
Where this research is happening
Baltimore, United States
- Johns Hopkins University — Baltimore, United States (Active)
Researchers
- Principal investigator: Pertea, Mihaela — Johns Hopkins University
- Study coordinator: Pertea, Mihaela
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.