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

UTAH 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.

UCGD Mission: The mission of the UCGD is to integrate patient genome information into health care.

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 Service Recharge Center (SRC)

In 2017, the USTAR Center for Genetic Discovery launched a service recharge center (SRC), which makes the expertise, compute infrastructure, and analysis capabilities of the UCGD research team available to researchers as a service under University of Utah Cores.  The UCGD service recharge center helps investigate the genetic basis for human disease by providing whole exome and genome sequence analyses for research and clinical projects.  We specialize in variant calling and disease-gene discovery utilizing tools developed by our group, including VAAST, pVAAST, PHEVOR, Lumpy, WHAM, IOBIO, and others.  Services offered include alignment and variant calling (including structural variant calling) for NGS datasets, joint genotyping, disease gene discovery in cohorts and families, and ad hoc research analyses as dictated by the project.  In total, the UCGD has available 2340 CPU cores and 3.25 PB of disc storage, plus access to additional shared resources. Total capacity for variant calling is approximately ~100,000 genomes annually via a combination of in-house and cloud-based processing.

Computing infrastructure: The Eccles Institute of Human Genetics provides a machine room with sufficient space, power and cooling for 15 industry standard racks. University of Utah provides email servers and hosts a system for the development of dynamic Web database applications, designed to support medical research that may need to store sensitive data. There is extensive support provided for all aspects of computing, including the security of data, backup of data, and 24/7 monitoring of all systems (including dedicated project servers).

UCGD Staircase

From the Blog

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.

Contact Info

  • 15 N 2030 E #2100
    Salt Lake City, UT 84112
  • 801.581.7805
  • Nodira.Codell@genetics.utah.edu