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Isabelle B. Cooperstein, BS is the Recipient of the 2023 ACMG Foundation/David L. Rimoin Inspiring Excellence Award

March 15, 2023
Isabelle B. Cooperstein, BS is the Recipient of the 2023 ACMG Foundation/David L. Rimoin Inspiring Excellence Award.  BETHESDA, MD – March 15, 2023 | The...

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Random Allelic Expression of Genes Could Complicate Disease, Diagnosis

February 13, 2023
A study published in Cell Reports involved analysis of more than 15,000 RNA-Seq datasets using new algorithms to uncover the landscape of allelic expression. Led by...

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Illumina Acquires IDbyDNA

June 24, 2022
Illumina has acquired IDbyDNA, a company developing metagenomic technology for infectious disease testing and pathogen surveillance. Read the full press release here. 
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Gabor Marth UCGD Principal Investigator

Newest Member of the Benning Medical Society

May 5, 2022
Gabor Marth, DSc, is a professor of human genetics and is co-director of the Utah Center for Genetic Discovery. Marth’s research is focused on developing computational tools...

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ARTIFICIAL INTELLIGENCE IDENTIFIES INDIVIDUALS AT RISK FOR HEART DISEASE COMPLICATIONS

January 27, 2022

University of Utah Health scientists, Mark Yandell, PhD, and Martin Tristani-Firouzi, MD, used artificial intelligence to better predict the onset and outcomes of heart disease

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U OF U HOSPITAL LAUNCHES RAPID DNA TESTING OF CRITICALLY-ILL INFANTS FOR FASTER DIAGNOSIS, BETTER CARE

February 18, 2020

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…

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GENES HOP, SKIP, AND JUMP TO ALTER THE HUMAN GENETIC CODE IN ABOUT ONE IN 20 BIRTHS

December 13, 2019

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…

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GRANT FROM CHAN ZUCKERBERG INITIATIVE TO FACILITATE GENOME ANALYSIS

November 14, 2019

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…

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How many mutations do parents pass on?

November 1, 2019

Tom Sasani from the Quinlan lab talks about his recent work on this eLIFE podcast

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Penelope Program Aids Passage of Utah Legislation to Benefit Children with Undiagnosed Diseases

October 23, 2019

UCGD analysts are participating in gene discovery research for the Penelope clinic.

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WE ARE ALL MUTANTS, MORE OR LESS

September 24, 2019

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…

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The University of Utah: what is the Penelope Program?

August 6, 2019

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…

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BIG DATASETS PINPOINT NEW REGIONS TO EXPLORE THE GENOME FOR DISEASE

December 12, 2018

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…

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Undiagnosed Diseases Network Expands to Include University of Utah

October 2, 2018

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…

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A MISSION TO SOLVE MEDICAL MYSTERIES: UNIVERSITY OF UTAH HEALTH JOINS NATIONAL UNDIAGNOSED DISEASE NETWORK

September 25, 2018

Scientists from the USTAR Center for Genetic Discovery are working with Dr. Lorenzo Botto, Professor of Pediatrics at U of U Health, to find answers…

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