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 ...

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 ...

Researchers have put together the most complete view yet of the genetic variation in humans, presented in two studies in the journal Nature. In a social media landscape shaped by hashtags, algorithms, ...

Researchers still do not have a comprehensive picture of the factors that influence gene expression in human cancers. Understanding gene expression in cancer is important because it can reveal how 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 ...

An international team of scientists has decoded some of the most stubborn, overlooked regions of the human genome using complete sequences from 65 individuals across diverse ancestries. This milestone ...

Scientists have discovered that a gene called MUC19, inherited from Denisovans through ancient interbreeding, may have played a vital role in helping Indigenous ancestors adapt as they migrated into ...

Blood cancer is an umbrella term for a variety of diseases that affect the blood, bone marrow and lymphatic system. Like most ...

A rare breed of hunting dogs known for its forked nose, the Turkish Pointer, might just help scientists better understand why human babies are sometimes born with facial clefts. In a recent study, ...

Discover how hidden complexities of the human genome are revealed by scientists from The Jackson Laboratory. Technological advancements are now allowing us to assemble continuous genomes with ...