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