Clinicians' ability to diagnose and treat chronic diseases is limited by scientific uncertainty around factors contributing to disease risk. A study published September 2 nd in the open-access journal ...

Rapidly testing hundreds of thousands of DNA sequences, scientists identified specific genetic variations contributing to blood pressure, cholesterol, and blood sugar.

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 ...

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, ...

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

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 ...

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 ...

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 ...

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 ...

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 ...