How many mutations do parents pass on?
Tom Sasani from the Quinlan lab talks about his recent work on this eLIFE podcast
CREATING NEW GENOMICS TECHNOLOGIES TO
CHANGE THE WAY DIAGNOSIS
OF HUMAN DISEASE IS DONE
OF HUMAN DISEASE IS DONE
CHANGE THE WAY DIAGNOSIS
OF HUMAN DISEASE IS DONE
OF HUMAN DISEASE IS DONE
UTAH Center for Genetic Discovery
DATA SCIENCE
Building algorithms and software tools to integrate, analyze, and visualize genomic big data.
GENOMIC MEDICINE
Discovering the genetic basis for inherited disease, cancer, and infectious disease.
UNDERSTANDING GENOMES
Illuminating the architecture, variation, regulation, and evolution of genes and genomes.
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.
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.
From the Blog
Penelope Program Aids Passage of Utah Legislation to Benefit Children with Undiagnosed Diseases
UCGD analysts are participating in gene discovery research for the Penelope clinic.
WE ARE ALL MUTANTS, MORE OR LESS
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…
The University of Utah: what is the Penelope Program?
Drs. Gabor Marth, Co-Director of the USTAR Center for Genetic Discovery, and Lorenzo Botto, Professor of Pediatrics, collaborate on the Penelope Program for rare and undiagnosed…
BIG DATASETS PINPOINT NEW REGIONS TO EXPLORE THE GENOME FOR DISEASE
Aaron Quinlan and his graduate student, Jim Havrilla, from the USTAR Center for Genetic Discovery, created a new genetic model that combs through thousands of…
Undiagnosed Diseases Network Expands to Include University of Utah
The National Institutes of Health has awarded $3 million to The U of U Health, the Children’s Hospital of Philadelphia, the University of Pennsylvania and…
UCGD Research Team Leaders
Mark Yandell
Principal Investigator
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.
Gabor Marth
Principal Investigator
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.
Aaron Quinlan
Principal Investigator
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.
By The Numbers
Genomics Software Tools Published
Human Genomes Analyzed
iphone6 devices to equal our computer cluster
Cups of coffee consumed per month