معرفی
The Marth Laboratory at the University of Utah Medical School is a leading computational genomics group focused on rare-disease diagnostics, precision oncology, and somatic mosaicism discovery. Affiliated with the Utah Center for Genetic Discovery and Department of Human Genetics, the lab develops tools like gene.iobio and RUFUS for variant analysis and clinical interpretation.
Research Interests:
- Developing reference-free k-mer variant detection algorithms
- Machine learning for phenotype-driven patient matching in rare diseases
- Precision oncology through tumor omics integration
- Somatic mosaicism mapping across human tissues
- Interactive genomic visualization tools for clinical use
Software Highlights:
- gene.iobio - Real-time variant annotation
- clin.iobio - Clinical variant review
- RUFUS - De novo variant calling
- superseeker - Tumor clone reconstruction
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