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

(Volodymyr Yakimchuk/Creatas Video+/Getty Images Plus) A seismic shift in the selection pressures acting on humans may have ...

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 ...

Completed in 2003, the Human Genome Project gave us the first sequence of the human genome, albeit based on DNA from a small handful of people. Building upon its success, the 1000 Genomes Project was ...

Ancient encounters between humans and the mysterious Denisovans are still shaping people today. By analyzing genomes from populations across the Pacific, researchers uncovered evidence that the ...

A team of scientists from the Barbara Ann Karmanos Cancer Institute, Wayne State University and institutions across the U.S.

In mammals, gene expression is governed by both genetic sequences and epigenetic modifications, such as DNA methylation, that instruct the cells of the body when and how to express each individual ...

Genetic disorders impacting vision affect millions of individuals worldwide, including age-related macular degeneration (common) and inherited retinal disorders (rare). There is an incomplete ...

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 ...

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 ...

Somewhere between 2% and 19% of the genetic ancestry carried by present-day West African populations traces back to an ...