For more than a century, heredity has been framed through the tidy logic of Mendel’s pea plants: traits pass from parent to ...

A new review highlights how human evolution has shaped the presence of pathogenic variations in DNA damage repair (DDR) genes, offering a new perspective on why modern populations face increased ...

New research by the National Neuroscience Institute (NNI) of Singapore has identified for the first time how gene variations cause changes in the brain that are linked to essential tremor—a common ...

Knowing how human DNA changes over generations is essential to estimating genetic disease risks and understanding how we evolved. But some of the most changeable regions of our DNA have been ...

Structural variants (SVs) are alterations in the DNA sequence that involve large-scale changes, typically longer than 50 base pairs. Advances in long-read sequencing have significantly increased ...

Genetics aren't necessarily destiny for those with mutations thought to always cause inherited blindness, a new study says. Fewer than 30% of people with these genetic variants wind up blind, even ...

St. Jude Children's Research Hospital investigators have discovered inherited genetic variations that are associated with rapid hearing loss in young cancer patients treated with the drug cisplatin.

New research in the journal Science by Maxwell postdoctoral scholar Dustin Hill, Professor of Public Health Dave Larsen and a team of researchers has found a strong connection between the prevalence ...