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 ...

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

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 ...

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 ...

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 ...

Researchers report that they have identified genetic variants that determine the shape of human teeth, including a gene inherited from Neanderthals. The scientists published their paper “PITX2 ...

A growing body of genetic evidence suggests that Neanderthals and Denisovans carried many of the same regulatory gene networks linked to language and vocal anatomy in modern humans, challenging the ...

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 ...

Since Neanderthals' whole genome was sequenced, there’s been growing interest in how their genetics influences our health. New research has found that genetic variations derived from our ancient ...

A rare breed of hunting dogs known for its forked nose, the Turkish Pointer, might just help scientists better understand why human babies are sometimes born with facial clefts. In a recent study, ...