Using three different software technologies including pVAAST and VAAST, developed at the USTAR Center for Genetic Discovery at the University of Utah, investigators discovered a mutation in one gene, POLR2C, linked to a higher risk of premature menopause.
Base2 Genomics has won a USTAR Technology Acceleration award to commercialize their platform for whole genome diagnostics with proprietary technologies for accurate CNV and SV discovery and interpretation. Read more in this Gephart Daily local news feature.
This week’s report in New England Journal of Medicine of two unusual Utah Zika cases raises questions about Zika virus transmission and virulence. Read about it in this NPR news feature.
A Utah man died of Zika virus infection and passed the virus to his son who cared for him in the hospital, according to a new report published in…
Frameshift Labs, LLC announces that it has secured NIH support to develop commercial software for visually driven genome analysis.
Researchers at University of Utah and ARUP Laboratories describe the first Zika virus-related death in the US. Published yesterday in the New England Journal of Medicine.
IDbyDNA announces today that it has closed $9 million in Series A financing to develop its Taxonomer-based infectious disease diagnostic technologies.
University of Utah, a recognized leader in genetics, genomics, and bioinformatics, has launched a program to train a new generation of physicians and scientists in the theory and practice of genomic medicine.
In this Scope Radio Interview, Dr. Lynn Jorde and Dr. Eric Green discuss opportunities and challenges in Genomic Medicine.
Aaron Quinlan discusses his software tool GEMINI and uncovering the the genetic cause of seizures in nearly a dozen infants.
NantHealth, Inc. has announced the Heritage 1K project, a collaboration with Utah Genome Project to analyze the entire genomic profiles of at least 1,000 individuals who have a history of rare and life-threatening diseases and conditions in their respective families.
Drs. Robert Schlaberg and Mark Yandell talk about the future of medicine and metagenomics in this KSL.com news feature.
Drs. Martin Tristani-Firouzi and Mark Yandell launch the Sudden Death in the Young project to discover the genetic causes of sudden cardiac death.
Scientists from the USTAR Center for Genetic Discovery spend the day at the Natural History Museum discussing genomics and genetic traits.
Dr. Gabor Marth talks about how a visual, interactive, and accessible web interface can put the power of a supercomputer into the hands of average people.
Dr. Robert Schlaberg was awarded a Global Grand Challenges award from the Bill and Melinda Gates Foundation to study fatal childhood infectious diseases in resource-limited settings.
Investigators from the USTAR Center for Genetic Discovery, ARUP Laboratories, and IDbyDNA have teamed up to produce Taxonomer, an ultrafast metagenomic analysis tool published today in Genome…
New work from the Shapiro and Yandell labs show that feathered feet in pigeons are more akin to wings at the molecular level.
Investigators Hilary Coon, Gabor Marth, and Aaron Quinlan have been awarded a SFARI grant from the Simon’s Foundation for Autism Research to study the genetic causes of Austism Spectrum Disorder.
UCGD investigator Aaron Quinlan and his team have released GQT, a software tool for exploring and querying large data sets of thousands to millions of genomes.
The USTAR Center for Genetic Discovery has used the FastQForward pipeline to analyze over a thousand human genome sequences in collaboration with projects like the Utah Genome Project and the Utah Pediatric Cardiac Genomics Consortium.
This month, two publications appear in a special issue of the journal Nature celebrating 25 years since the launch of the Human Genome Project and marking the completion of The 1000 Genomes Project, launched in 2008.
A new collaboration with Regeneron Genetics Center combines the power of Utah’s computational genomics with Regeneron’s strength in pharmacogenomics to identify novel targets for drug development.
The Marth laboratory at the USTAR Center for Genetic Discovery has created gene.iobio, a genomics software tool for real-time analysis of disease-causing genetic variants over the web.