Genome assemblies from 65 individuals, representing a variety of the world’s populations, are advancing the scientific exploration of complex genetic structural variation. Structural variations are ...

Researchers use long-read genome sequencing to discover 33% more structural variants and 38% more tandem repeats linked to autism spectrum disorder.

Scientists have identified how specific genetic changes function in cells to influence disease risk and other human health traits. By probing regions ...

As koalas in southern Australia have grown from a few hundred to almost half a million, the marsupials show signs of regaining lost genetic variation.

Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence (AI) tool that not only identifies disease-causing genetic mutations but also predicts the type ...