The Case Comprehensive Cancer Center will host a seminar series event Friday, April 13, from noon to 1 p.m. in the Iris S. and Bert L. Wolstein Research Building auditorium. The event will feature ...

Accurate interpretation of cancer genomics depends on standardized disease classification, tumor characterization, and ...

Genetic studies now identify millions of variants across human populations, yet most disease-associated signals fall outside protein-coding regions. This ...

The Clinical Genome Resource (ClinGen), a National Institutes of Health (NIH)-funded resource that works to define the clinical relevance of genes and variants, has published data on more than 2,700 ...

In an international study, researchers at Lund University in Sweden have identified a gene variant that controls the body's ...

A positive newborn screening for spinal muscular atrophy (SMA) is currently considered a medical emergency. Without early ...

In two new studies on 28,000 individuals, researchers are able to show that genetic variants in 11 regions of the human genome have a clear influence on which bacteria are in the gut and what they do ...

A new study links a particular gene and a protein variant found only in humans to the origins of spoken language. Researchers used CRISPR gene editing to replace the NOVA1 protein found in mice with ...

A common genetic variant is linked to a doubled dementia risk for older men, a recent analysis in Neurology suggests. The study used data from Aspirin in Reducing Events in the Elderly (ASPREE), which ...

Letasha (left) and Kristina (center) both have COPA syndrome. Their mother, Betty (right), has the same disease mutation in the COPA gene, but is healthy thanks to having the HAQ-STING gene. UCSF ...