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 ...

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 ...

Researchers have put together the most complete view yet of the genetic variation in humans, presented in two studies in the journal Nature. In a social media landscape shaped by hashtags, algorithms, ...

An international team of scientists has decoded some of the most stubborn, overlooked regions of the human genome using complete sequences from 65 individuals across diverse ancestries. This milestone ...

A new study provides fresh evidence that ancient interbreeding with archaic human species may have provided modern humans with genetic variation that helped them adapt to new environments as they ...

The Indigenous peoples of the Bolivian highlands are survivors. For thousands of years they have lived at altitudes of more than two miles, where oxygen is about 35 percent lower than at sea level.

The team first looked at variation in data from genetic sequencing of 106,973 post-menopausal female participants in the UK Biobank study. Researchers focused on rare types of genetic changes which ...

Ancestry and lifestyle choices of parents may affect the rate and type of new genetic changes that arise in their children, new research has found. Published in Nature Communications, researchers from ...

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, ...

Discover how hidden complexities of the human genome are revealed by scientists from The Jackson Laboratory. Technological advancements are now allowing us to assemble continuous genomes with ...