Scientists at Princeton and the Simons Foundation have identified four biologically distinct subtypes of autism, using data ...

Two studies using long-read sequencing have revealed over 167,000 structural variants across global populations, doubling known variation. By combining breadth and depth, researchers mapped ...

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 ...

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. The study, ...

More than 30 types of muscular dystrophy have been identified. They all cause problems with movement due to muscle protein defects caused by genetic mutations. Muscular dystrophy is a group of ...

What: Researchers have identified inherited genetic variants that may predict the loss of one copy of a woman's two X chromosomes as she ages, a phenomenon known as mosaic loss of chromosome X, or ...

These genetic variants may play a role in promoting abnormal blood cells (that have only a single copy of chromosome X) to multiply, which may lead to several health conditions, including cancer.

Genetic drivers and cellular selection of female mosaic X chromosome loss. Nature, 2024; DOI: 10.1038/s41586-024-07533-7 ...