The alternative text for this image may have been generated using AI. Germline and somatic variants are inherently connected. All germline variants originate as de novo somatic mutations either in ...

The great majority of how we understand human disease, and attempt to cure it, derives from mice genetically fashioned to be prolific breeders, docile and easy to handle—all qualities that have made ...

24-hour biological rhythms are essential to maintain physiological homeostasis. Disruption of these rhythms increases the risks of multiple diseases. Biological rhythms are known to have a genetic ...

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 ...

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 mapped variation in human stem cells that explains how cells of an individual may shape a unique 'developmental dance' at the molecular level, thereby controlling how the brain and ...

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 ...

A new Yale-led study provides one of the most detailed and comprehensive analyses to date of genetic variation in human ...

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 ...

Are human beings as unique as snowflakes? Not quite, but new research shows humans may have a lot more individuality than originally thought -- in fact, the genetic codes of people can vary by as much ...