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 ...

Veronica Paulus is a former STAT intern supported by the Harvard University Institute of Politics. Complex regions of the human genome remained uncharted, even after researchers sequenced the genome ...

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 ...

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 ...

A watercolor artist’s interpretation of the relationship between the human genome and gut mycobiome. Created by Amy Bean, watercolor journalist and mom of first author Emily Van Syoc. Clinicians’ ...

Humans were isolated in southern Africa for about 100,000 years, which caused them to "fall outside the range of genetic variation" seen in modern-day people, a new genetic study reveals. The finding ...