Researchers have significantly expanded the catalogue of known human genetic variation. The resulting datasets, shared in two back-to-back publications in the journal Nature, constitute what may be ...

Small variations in DNA sequence can alter an organism’s response to the environment or susceptibility to disease. Interpreting the impact of genome sequence variation remains a research challenge.

Researchers still do not have a comprehensive picture of the factors that influence gene expression in human cancers. Understanding gene expression in cancer is important because it can reveal how the ...

The human genome is organised in 46 chromosomes, where all but the x and y chromosomes in men are present in two copies. This means that a person with a faulty gene on one chromosome most often has a ...

Researchers have demonstrated a specific type of genetic variation in obsessive-compulsive disorder (OCD) for the first time using advanced DNA sequencing technology. The findings support previous ...

Type 1 diabetes is an autoimmune condition in which the body attacks its own insulin-producing cells in the pancreas. Some ...

Research shows variants affecting the PAM enzyme may blunt the glucose-lowering effects of GLP-1 receptor agonists with ...

Serially cloned mice hit a genetic “dead end” by generation 58, underscoring that sex evolved for variation, purging harmful ...