Improving computer tools to find and map genes in human and other genomes
Computational Methods for Gene Discovery, Genome Annotation, and Genome Assembly
Building smarter computer programs to uncover genes and gene activity in people’s DNA so researchers can better understand health and disease.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project ID | NIH-11131617 on NIH RePORTER |
What this research studies
Researchers will analyze large amounts of DNA and RNA sequencing data to find genes and how they are used in different tissues. They will create new computer algorithms, including neural networks, to recognize gene parts like splice sites and protein-coding regions. The team will also use protein structure predictions to help identify which gene versions make functional proteins and will build a whole-genome annotation pipeline that uses many samples instead of a single reference. These tools will be applied to human and other species’ genomes to produce more complete catalogs of genes and transcripts.
Who could benefit from this research
Good fit: People with known or suspected genetic conditions, families seeking a genetic diagnosis, or anyone willing to share DNA/RNA data could be relevant to this work.
Not a fit: Patients whose conditions are not related to genetics or who cannot or do not wish to share genetic data are unlikely to directly benefit from this project.
Why it matters
Potential benefit: If successful, this could speed and improve the detection of disease-related genes, helping with diagnosis and guiding development of new treatments.
How similar studies have performed: Related computational methods and RNA sequencing have already helped discover disease genes, and this project combines those proven approaches with newer AI and protein-structure tools to push further.
Where this research is happening
Baltimore, United States
- Johns Hopkins University — Baltimore, United States (Active)
Researchers
- Principal investigator: Salzberg, Steven L. — Johns Hopkins University
- Study coordinator: Salzberg, Steven L.
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.