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.

Summary of UCGD Service Recharge Center compute resources:

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).

The University of Utah Center for High Performance Computing (CHPC) is an organization of professional faculty and staff dedicated to providing access to high performance computing for research and education.  The CHPC provides space, infrastructure, and systems support for large-scale computing and advanced networking systems.  Computing equipment is housed in a newly renovated state-of-the-art 74,000 sq. ft. facility with 24-hour staff support, security, and high-efficiency cooling and energy supply systems.  The CHPC cluster uses a Portable Batch System (PBS) job submission queue that facilitates large-scale analysis jobs. The University cluster also supports the OpenMPI message-passing interface, which allows for development and testing of scalable genome arithmetic software.  All resources are HIPAA compliant.