CREATING NEW GENOMICS TECHNOLOGIES TO
CHANGE THE WAY DIAGNOSIS
OF HUMAN DISEASE IS DONE
CHANGE THE WAY DIAGNOSIS
OF HUMAN DISEASE IS DONE

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

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.

UCGD Staircase

From the Blog

Gene Linked to Higher Risk for Premature Menopause

Using three different software technologies including pVAAST and VAAST, developed at the USTAR Center for Genetic Discovery at the University of Utah, investigators discovered a mutation in one gene, POLR2C, linked to a higher risk of premature menopause.

Read More

Base2 Genomics wins USTAR Technology Acceleration Award

Base2 Genomics has won a USTAR Technology Acceleration award to commercialize their platform for whole genome diagnostics with proprietary technologies for accurate CNV and SV discovery and interpretation.  Read more in this Gephart Daily local news feature.  

Read More

@USTARGenetics TWITTER FEED

UCGD Research Team Leaders

Mark Yandell

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

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.

Aaron Quinlan

Aaron Quinlan

Principal Investigator

Our lab marries genetics and genomics techniques with computer science, machine learning, and engineering to develop new ways of gaining insight into genome biology and the genetic basis of traits.

"We’re eliminating the need for expensive computational and hardware investments that before had limited genomic analysis to institutional-scale data centers."

Gabor Marth, UCGD Principal Investigator

By The Numbers

Genomics Software Tools Published
Human Genomes Analyzed
iphone6 devices to equal our computer cluster
Cups of coffee consumed per month

Get In Touch With Us

UCGD investigators welcome applications from qualified graduate students, postdocs, and software developers. If you’d like to work at the intersection of genomics and computer science, please get in touch.

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