Utah Center for Genetic Discovery: Visualizing & Interpreting Genomes
Sometimes all it takes is one small glitch in our genome—a variation in one out of three billion DNA base pairs—to cause disease. In fact, scientists are learning that our DNA blueprints contain a wealth of health information, and interpreting it is a monumental challenge uniquely suited to advanced computational technologies.
To meet this need, the Utah Center for Genetic Discovery develops:
- artificial intelligence,
- software tools,
- analysis pipelines, and
- data management systems to visualize and interpret genomes.
The Utah Center for Genetic Discovery is working with the Center for Genomic Medicine to bring DNA-based diagnostics to the bedside, enabling doctors to make better informed decisions.
Stories of Discovery
Revealing the Hidden Genome
With the invention of a new way to read DNA, called nanopore sequencing, comes exciting possibilities. Using the technology, investigators have been able to see regions of the human genome that until now have been virtually invisible, revealing new categories of disease-causing changes.
Smart Cancer Genomics
Investigators are developing computational methods for tracking genetic changes in cancerous tumors so that physicians can prescribe the right targeted treatments at the right time.
Inherited Disease Gene Discovery
Cutting-edge algorithms developed in-house are helping researchers analyze genome sequences to pinpoint the genetic causes of a broad range of inherited disorders, from heart conditions to rare diseases.
Publications
The Utah Center for Genetic Discovery is working with the Center for Genomic Medicine to bring DNA-based health information to the bedside, enabling doctors to make better informed decisions.