The Human Genome Project changed everything. A map of the entire human sequence of DNA was the starting point for an enormous number of discoveries, from disease genes to how humans evolved. But DNA ...

A deeper understanding of how DNA changes over generations helps scientists learn why people differ and how diseases develop. Until recently, many fast-changing parts of the human genome remained ...

Twenty-two years after the completion of the Human Genome Project, scientists have unveiled the most expansive catalog of human genetic variation ever compiled. Across two new papers published ...

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 ...

A team of researchers has generated one of the most detailed 3D maps of human chromosomes, cataloging over 140,000 DNA looping interactions.

Scientists have cracked open some of the most mysterious corners of our DNA, revealing that parts of the human genome mutate at a far faster pace than previously imagined. By studying four generations ...

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 ...

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 ...

One of the most detailed 3D maps of how the human chromosomes are organized and folded within a cell's nucleus is published in Nature.

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 ...

Human gene maps contain major blind spots because they were built largely from the DNA sequences of people with European ancestry, according to a study published in Nature Communications. Researchers ...