Genesis & History
From a state investment, to a clinical reality.
Two arms. One center.
The Six PI labs.
The research engine of UCGD. Six principal-investigator laboratories that drive primary discovery in human genetics, mosaicism, oncology, evolutionary biology, and clinical genomics — and author the open- source software the field runs on.
The UCGD Core.
A fee-for-service internal "spinout" of the academic initiative, administered through HSC Cores. Makes UCGD's bioinformatics resources and expertise available to any University of Utah investigator — and provides the cost-recovery mechanism that funds infrastructure for everyone.
Variant calling at every scale — exome to whole genome
Disease-gene discovery in cohorts and families
Long- and short-read alignment, joint genotyping
Structural variant calling, methylation, RNA-seq
Microbial assembly & metagenomics
Project & data management through Mosaic
Contributions to the field.
Seminal Publications
Tools & Community Standards
Consortium Contributions
† The Undiagnosed Diseases Network is listed here as a consortium membership — not as a UCGD project. UCGD investigators participate in the UDN; the network itself is led nationally.
Outcomes the institution carries.
Institutional
Platforms born here, used everywhere
EHR-enabled disease research
Integration of University of Utah Hospitals electronic-health-record data into disease research — surfacing phenotypic signals at population scale.
Mosaic patient data system
Collaborative development with Frameshift Genomics for genomic patient data management, sharing, and project administration. The UCGD Core’s primary data interface.
Precision oncology platform
Joint School of Medicine + Huntsman Cancer Institute funding supported a functional drug- screening platform now in use for advanced/metastatic breast cancer and being extended for pediatric brain cancer.
Long-read sequencing at U of U
Technology integration and application across UCGD — enabling the resolution of complex and segmentally duplicated regions inaccessible to short-read sequencing.
Who funds this work.
Projects
Selected initiatives
National Institute of General Medical Sciences NIGMS
NIGMS supports basic research that increases understanding of biological processes and lays the foundation for advances in disease diagnosis, treatment, and prevention.
National Center for Advancing Translational Sciences NCATS
NCATS aims to accelerate the process of turning biomedical discoveries into real-world applications — diagnostics, treatments, and cures.
American Heart Association AHA
Through longstanding support of scientific research, the AHA has propelled breakthroughs that have saved and improved lives — with a commitment to funding early-career investigators.
National Institute of Diabetes & Digestive and Kidney Diseases NIDDK
NIDDK research creates knowledge about and treatments for some of the most chronic, costly, and consequential diseases for patients and their families.
Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD
NICHD's mission is to lead research and training to understand human development, improve reproductive health, enhance the lives of children and adolescents, and optimize abilities for all.
Chan Zuckerberg Initiative CZI
Founded in 2015 to help solve some of society's toughest challenges — from eradicating disease and improving education to addressing the needs of local communities.
Centers for Disease Control and Prevention CDC
Detecting and responding to new and emerging health threats, putting science and advanced technology into action to prevent disease, and training the public health workforce.
National Cancer Institute NCI
Supports UCGD through the Informatics Technologies for Cancer Research Program — funding software tools and methods that track the clonal evolution of tumors.
University of Utah Health Sciences
The largest academic medical center in the Intermountain West — providing care for the people of Utah, Idaho, Wyoming, Montana, and much of Nevada, while serving as Utah's premier research and teaching university.
Margolis Foundation
Generously supports the research mission of University of Utah Health Sciences — including projects in diabetes, cardiovascular disease, brain disorders, inflammatory conditions, and inherited genetic diseases.
National Human Genome Research Institute NHGRI
Began as the National Center for Human Genome Research, established in 1989 to carry out the role of the NIH in the International Human Genome Project — and continues to fund the field's most ambitious efforts.
Simons Foundation Autism Research Initiative SFARI
SFARI's mission is to improve the understanding, diagnosis, and treatment of autism spectrum disorders by funding innovative research of the highest quality and relevance.
National Science Foundation NSF
An independent federal agency created by Congress in 1950 to promote the progress of science, advance the national health, prosperity, and welfare, and secure the national defense.
National Heart, Lung, and Blood Institute NHLBI
Provides global leadership for a research, training, and education program to promote the prevention and treatment of heart, lung, and blood diseases — and enhance the health of all individuals.
USTAR — Utah Science Technology and Research Initiative
The state of Utah's investment vehicle for growing the technology and life-sciences economy — which co-founded UCGD in 2014 alongside U of U Health Sciences.
Huntsman Cancer Institute
Joint funding with the U of U School of Medicine has supported the precision oncology platform — extending functional drug- screening from advanced breast cancer into pediatric brain cancer.
Where to next
Nodira Codell, MPA
nodira.codell@genetics.utah.edu
801.581.7405
Utah Center for Genetic Discovery
