As language models learn to interpret words in a sentence, protein language models learn how amino acids work together within ...

Throughout development, life and the processes of aging, all human cells accumulate mutations, resulting in what is called mosaicism, a condition in which different cells in the same person have ...

Traditional biochemical methods of studying human gene mutations are often laborious and costly. Now bioengineers at the University of California San Diego have developed a new simple approach to ...

In a novel study, researchers introduced LoGoFunc, an advanced computational tool that predicts pathogenic gain- and loss-of-function variants across the genome. Unlike current methods that ...

In their first few months of life, two siblings rapidly lost most of their body fat. Now, doctors have found the cause: a DNA mutation never previously linked to their underlying disease. People with ...

Most mutations that cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a major study of human protein variants that was published in Nature ...

Researchers have created the largest atlas of post-zygotic genome mutations in healthy human tissue ever assembled -- a scientific advancement that could unlock new avenues for diagnosing and treating ...

The human genome is contained in the nucleus of almost every cell in the body. But those cells also contain multitudes of mitochondria, and these incredible little power-generating organelles carry ...

The genetic mutations that have been studied the most are those that have been linked to human disease, but what about mutations that provide some benefit? Researchers have now identified mutations ...