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 ...

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 ...

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, ...

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 ...

Languages and human DNA both capture aspects of human diversity. But how are they related? A new international study led by ...

Scientists have discovered that a gene called MUC19, inherited from Denisovans through ancient interbreeding, may have played a vital role in helping Indigenous ancestors adapt as they migrated into ...

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 more predictive, preventive approach to medicine can enable more accurate population-level risk assessments and predictions ...

Individuals that share the same deletion of a portion of chromosome 16 are at risk of developing neurodevelopmental disorders ...

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 ...