CREATING NEW GENOMICS TECHNOLOGIES TO
CHANGE THE WAY DIAGNOSIS
OF HUMAN DISEASE IS DONE
OF HUMAN DISEASE IS DONE
CHANGE THE WAY DIAGNOSIS
OF HUMAN DISEASE IS DONE
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
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 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. Read more
From the Blog
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
U OF U HOSPITAL LAUNCHES RAPID DNA TESTING OF CRITICALLY-ILL INFANTS FOR FASTER DIAGNOSIS, BETTER CARE
In collaboration with ARUP and U of U’s Center for Genomic Medicine, Mark Yandell from the Utah Center for Genetic Discovery use rapid whole genome…
GENES HOP, SKIP, AND JUMP TO ALTER THE HUMAN GENETIC CODE IN ABOUT ONE IN 20 BIRTHS
Lynn B. Jorde, PhD, chair of U of U Health’s Department of Human Genetics, is studying how “jumping genes”, known as mobile elements, are capable…
GRANT FROM CHAN ZUCKERBERG INITIATIVE TO FACILITATE GENOME ANALYSIS
Aaron Quinlan, PhD, associate director of the Utah Center for Genetic Discovery at University of Utah Health, is one of 32 selected proposals that were awarded…
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.
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.
By The Numbers
Genomics Software Tools Published
Human Genomes Analyzed
iphone6 devices to equal our computer cluster
Cups of coffee consumed per month