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 ...

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 ...

A new study uses age-stratified allele frequencies to map ongoing natural selection and rare pathogenic variants.

For more than a century, scientists have sought to reconstruct human evolution using diverse lines of evidence, including ...

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 ...

A new Yale-led study provides one of the most detailed and comprehensive analyses to date of genetic variation in human populations in Oceania, filling a major gap in representation in genomics ...

Researchers have demonstrated a specific type of genetic variation in obsessive-compulsive disorder (OCD) for the first time using advanced DNA sequencing technology. The findings support previous ...

In 2001 scientists studying human language made a breakthrough: by looking at the DNA of a family with a rare speech disability, they found that a mutation in a single gene called FOXP2 were ...