Researchers still do not have a comprehensive picture of the factors that influence gene expression in human cancers. Understanding gene expression in cancer is important because it can reveal how the ...

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 ...

As genetic sequencing technology becomes more accessible and efficient, researchers have made significant strides in understanding the genetic underpinnings of various diseases. This knowledge has led ...

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 mLOX.

Researchers have created an artificial intelligence model that can identify which mutations in human proteins are most likely to cause disease, even when those mutations have never been seen before in ...

Investigations suggest V2P may be efficiently applied for the automated identification of causal variants in simulated and actual patient sequencing data across phenotypes.

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 ...

Experts say the research could reveal more about the role of genetics in autism and lead to more personalized care. A new study has identified four biologically distinct subtypes of autism, each with ...