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.
We are thrilled to announce that Alexis joined the Quinlan Lab in September 2025. Her research focuses on leveraging genetic diversity and computational techniques to investigate the architecture of complex traits. Read more.
We are thrilled to announce that Christina Akirtava has joined the Marth Lab as a postdoctoral researcher! Her expertise will undoubtedly enhance our research efforts and contribute significantly to our ongoing projects.
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.
Bennet Peterson, PhD, a postdoctoral researcher in human genetics at U of U Health, focused on how to quickly identify newborn patients who are most likely to benefit from whole-genome sequencing so that patients in need don’t fall through the cracks. Read more
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.
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 interested in the biological questions that genomic mosaicism can help us answer. From a fertilized egg, all our cells constantly acquire mutations. Our body repairs most mutations, but left scars in our genome and pass them down from cell to cell during embryonic development, upon tissue self-renewal, or after environmental exposure.
My laboratory focuses on developing computational tools and approaches to reveal novel biological insights within the most challenging and rapidly evolving regions of the human genome—segmental duplications (SDs).
Our laboratory has long been involved in studies of human genetic variation and disease. We realized the advantages of Utah’s large families for disease-gene identification, and we have carried out studies of human limb malformations, autism, hypertension, juvenile idiopathic arthritis, preterm birth, inflammatory bowel disease, amyotrophic lateral sclerosis, and a number of other Mendelian and common, complex diseases.
