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 ...

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

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 watercolor artist’s interpretation of the relationship between the human genome and gut mycobiome. Created by Amy Bean, watercolor journalist and mom of first author Emily Van Syoc. Clinicians’ ...

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 ...

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

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 ...

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 ...

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 ...

A new landmark study has uncovered evidence that challenges the long-held beliefs about human evolution.