What We Do

In 2014, the State of Utah Science Technology and Research (USTAR) initiative invested $3.25 million, with a matching commitment of $3.25 million from the University of Utah Health Sciences Center, to establish the USTAR Center for Genetic Discovery (UCGD).

Our Mission

From DNA to diagnosis, the mission of the USTAR Center for Genetic Discovery is to integrate patient genome information into health care.

UCGD Develops Tools for:

  • Genome Interpretation
  • Disease Discovery
  • Big Data Management for Research and Clinical Applications

A Foundation Composed of Experts

Over the past ten months, Center resources have been successfully leveraged to recruit two leaders in computational biology and genomic analysis to the University of Utah:

Gabor Marth, PhD – a computational biologist who has made significant contributions to national and international genome sequencing and interpretation projects including the Human Genome Project, the Cancer Genome Atlas Project, and the 1000 Genomes Project.

Aaron Quinlan, PhD – an expert in cancer genome analysis and data integration tools and developer of BEDtools, a widely used software package for manipulating genomic data.

Marth and Quinlan join University of Utah Professor of Human Genetics Mark Yandell, PhD, an internationally recognized leader in software development for comparative genomics and co-developer of the first probabilistic algorithm for sequence variant discovery, to co-lead the Center. To date, the Center has hired nine business and software developer/analysts, seven of whom are also PhD scientists, to implement the software innovation, data analysis, and pipeline development for the Center.

UCGD and the Utah Genome Project

The USTAR Center for Genetic Discovery is the computational engine for the Utah Genome Project, a large-scale, genome sequencing and analysis initiative to discover new disease-causing genes and to develop genetic diagnostics and precision therapies that will transform health care.

In the course of one year, beginning November 1, 2014, the USTAR Center for Genetic Discovery will be responsible for analyzing 1,200 whole genome sequences generated via a Utah Genome Project initiative called Heritage 1K. Heritage 1K, supported by a $12 million philanthropic gift from the Chan Soon-Shiong Family Foundation, is a project to sequence 1,000 people in Utah who have a history of certain diseases / conditions in their respective families. Approximately 200 of these individuals will also have somatic tissue sequenced to compare germline with tumor genomes. USTAR Center for Genetic Discovery personnel will collaborate with about 20 principal investigators of Heritage 1K projects to maximize new knowledge returned from this sequencing project. Heritage 1K is only one of several large-scale genome analysis projects currently underway at the USTAR Center for Genetic Discovery, which has amassed the personnel expertise and the computational infrastructure to support large, collaborative genome analysis projects.