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 ...

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 ...

The most complex engineering of human cell lines ever has been achieved by scientists, revealing that our genomes are more resilient to significant structural changes than was previously thought. The ...

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 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 ...

Among genetically identical "agouti viable yellow" (A vy) mice, some are brown and lean while others are yellow and obese. These differences are due to epigenetics, a system of molecular tags—such as ...

A new study in the Proceedings of the National Academy of Sciences finds that differences between Neanderthal and early ...