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 ...

Knowing how human DNA changes over generations is essential to estimating genetic disease risks and understanding how we evolved. But some of the most changeable regions of our DNA have been ...

New research in the journal Science by Maxwell postdoctoral scholar Dustin Hill, Professor of Public Health Dave Larsen and a ...

For more than a century, Mendelian genetics has shaped how we think about inheritance: one gene, one trait. It is a model that still echoes through textbooks—and one that is increasingly reaching its ...

Two months later, Gould began to experience a strange cascade of symptoms. His ankles swelled to the width of his calves. The right side of his face became so bloated that he could not open his eye.

Gene editing may hold the key to rescuing endangered species—not just by preserving them, but by restoring their lost genetic diversity using DNA from museum specimens and related species. Scientists ...

Nature and nurture both determine how likely you are to develop a particular disease. Hiroshi Watanabe/DigitalVision via Getty Images Sitting in my doctor’s examination room, I was surprised when she ...

Asperger’s, now referred to as autism spectrum disorder (ASD), involves a complex interplay of genetic and environmental factors. Asperger’s was once considered a distinct condition but is no longer ...

Knowing how human DNA changes over generations is essential to estimating genetic disease risks and understanding how we evolved. But some of the most changeable regions of our DNA have been ...