Building algorithms and software tools to integrate, analyze, and visualize genomic big data.
Discovering the genetic basis for inherited disease, cancer, and infectious disease.
Illuminating the architecture, variation, regulation, and evolution of genes and genomes.
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
Researchers including Lynn Jorde, PhD, Deborah Neklason, PhD and Aaron Quinlan, PhD, have created the most detailed atlas yet of how human DNA mutates across generations, uncovering that some regions of the genome change much faster than previously known. This work promises to improve genetic counseling and deepen insights into how genetic variation shapes health and biology. Read the full article here.
One-U RAI Announces Inaugural Awardees: Seven Faculty Fellows and One Distinguished Visitor. Read More
This year’s Human Genetics Retreat took place on October 18-19, 2024 at Snowpine Lodge up Big Cottonwood Canyon. Thank you for your time during our Alta retreat, we are grateful for your engagement and for sharing your science and creative ideas to make our community even better.
Aaron Quinlan, PhD, has been appointed Chair of the Department of Human Genetics in the Spencer Fox Eccles School of Medicine at University of Utah Health, effective August 19, 2024. READ MORE
Isabel Serrano is a PhD Candidate in Computational Biology at the University of California, Berkeley will be joining the Quinlan Lab in October 2024!!
Harriet Dashnow starts a faculty job as an Assistant Professor in the Department of Biomedical Informatics at the University of Colorado Anschutz Medical Camps on July 1st, 2024!! Read more.
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.
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.
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.
Our lab is focused on the biological questions that genomic mosaicism can help us answer. From a fertilized egg, all our cells constantly acquire mutations.
