Germline and somatic variants are inherently connected. All germline variants originate as de novo somatic mutations either in parental germ cells or very early in embryonic development. As such, ...

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 ...

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 ...

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 ...

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 ...

Scientists have generated a new catalog of human gene expression data from around the world to address how most research in human genetics has historically focused on people of European ancestries -- ...