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 ...

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

We've never been closer to accurately assessing whether an individual is more susceptible to developing major depressive disorder due to their biology, with 293 newly identified gene variants found to ...

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

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 ...

A novel genetic variant may be a driving force behind the development of metabolic dysfunction–associated steatotic liver disease (MASLD) in some cases, according to researchers at the Mayo Clinic in ...

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 ...