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.
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…
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…
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…
Tom Sasani from the Quinlan lab talks about his recent work on this eLIFE podcast
UCGD analysts are participating in gene discovery research for the Penelope clinic.
Aaron Quinlan, Professor of Human Genetics, and Tom Sasani, a graduate student in the Quinlan lab at the Utah Center for Genetic Discovery, discuss the…
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.
