USTAR Center for Genetic Discovery
DATA SCIENCE
Building algorithms and software tools to integrate, analyze, and visualize genomic big data.
GENOMIC MEDICINE
Discovering the genetic basis for inherited disease, cancer, and infectious disease.
UNDERSTANDING GENOMES
Illuminating the architecture, variation, regulation, and evolution of genes and genomes.
ABOUT US
In 2014, the State of Utah Science Technology and Research (USTAR) initiative and the University of Utah Health Sciences Center established the USTAR Center for Genetic Discovery (UCGD) with the goal of leveraging Utah’s unique resources to create a computational genomics hub in Utah. We develop algorithms, software tools, analysis pipelines, and data management systems that enable researchers and clinicians to visualize and interpret genomic big data.
Genomic Medicine: A major focus of the UCGD is the integration of a patient’s genome data into health care. As “computational engine” for the Utah Genome Project and other large-scale personalized health initiatives, our tools enable the discovery of inherited disease risk factors. Our genomic medicine toolkit also includes software for tumor subclone monitoring, infectious disease diagnosis, data visualization, and clinical reporting.
Understanding Genomes: Together with our collaborators, UCGD investigators lead efforts to understand the structure and evolution of genomes. We develop better algorithms and methods to detect and report genetic variation, including structural variants, mobile elements, and regulatory elements. Our tools enable cost-effective and rapid annotation of genomes and genetic variation, supporting robust research programs in population, evolutionary, and agricultural genomics.
From the Blog
Isabelle B. Cooperstein, BS is the Recipient of the 2023 ACMG Foundation/David L. Rimoin Inspiring Excellence Award
Isabelle B. Cooperstein, BS is the Recipient of the 2023 ACMG Foundation/David L. Rimoin Inspiring Excellence Award. BETHESDA, MD – March 15, 2023 | The...Random Allelic Expression of Genes Could Complicate Disease, Diagnosis
A study published in Cell Reports involved analysis of more than 15,000 RNA-Seq datasets using new algorithms to uncover the landscape of allelic expression. Led by...Illumina Acquires IDbyDNA
Illumina has acquired IDbyDNA, a company developing metagenomic technology for infectious disease testing and pathogen surveillance. Read the full press release here.Newest Member of the Benning Medical Society
Gabor Marth, DSc, is a professor of human genetics and is co-director of the Utah Center for Genetic Discovery. Marth’s research is focused on developing computational tools...ARTIFICIAL INTELLIGENCE IDENTIFIES INDIVIDUALS AT RISK FOR HEART DISEASE COMPLICATIONS
University of Utah Health scientists, Mark Yandell, PhD, and Martin Tristani-Firouzi, MD, used artificial intelligence to better predict the onset and outcomes of heart disease
UCGD Research Team Leaders
Mark Yandell
Principal Investigator
Every genome is a treasure trove of information about gene function, evolution, and disease. Our computational genomics tools are used to identify disease-causing variants in clinical settings, to understand the molecular basis of gene regulation and dysfunction, to annotate genomes, and to understand evolution.
Gabor Marth
Principal Investigator
My research group is building a web-based platform for interactive, real-time, analysis of genomic big data over the internet, with applications in genomic medicine and basic research. We also develop algorithms and tools to detect and annotate complex genomic structural variation.