Genetic variation is the foundation of human diversity, enabling differences in traits such as height, eye color, or blood type. Some sequence variants also cause inherited diseases, including sickle ...

The clinical interpretation of genetic testing results remains one of the most significant hurdles in effectively applying genomics in modern medicine. Errors in variant interpretation, whether false ...

Genetic variants can take many different forms. For example, a single letter of the DNA alphabet might be miscopied, like a typo; or whole words, sentences or even chapters can be deleted or inserted ...

Researchers have identified a causal genetic variant strongly associated with childhood obesity. The study provides new insight into the importance of the hypothalamus of the brain and its role in ...

Scientists studying Alzheimer's disease (AD) have identified thousands of genetic variants in the genome in the development of this progressive neurodegenerative disease. These variants are ...

Investigations suggest V2P may be efficiently applied for the automated identification of causal variants in simulated and actual patient sequencing data across phenotypes.

A new international study led by Mayo Clinic researchers has identified a genetic factor that may explain why some patients with colorectal cancer that has spread to the liver experience more severe ...

(L to R) Co-first author Jackson Mobley, PhD, corresponding author Daniel Savic, PhD, and co-first author Kashi Raj Bhattarai, PhD, all of the St. Jude Department of Pharmacy and Pharmaceutical ...

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 ...

Non-coding DNA variants contribute to acute lymphoblastic leukemia (ALL) chemotherapy resistance. St. Jude Children's Research Hospital scientists have identified specific DNA variants in the ...