Resources are available to help physicians when they encounter variants of unknown significance during genetic testing, Troy ...

For example, they can reduce their overall stability ... "No one else has studied the impact of pathogenic missense mutations on a scale like this, where we've tracked the movement of proteins ...

Each combination of three letters (ATC, or TCG, for example) determines an amino ... also recreated mouse models bearing the same missense mutations observed in patients. They then developed ...

For example, AlphaMissense, an AI model also from DeepMind, has the ability to predict whether genetic mutations (missense variants) are harmful, helping scientists identify disease-causing ...

The second pair, HumVar 3, consists of all the 13,032 human disease-causing mutations from UniProt and 8,946 human nonsynonymous single-nucleotide polymorphisms (nsSNPs) without annotated ...

Previous work has tended to focus on mutations in regions of the genome that don't change that often. But the changeable regions might be highly repetitive, for example, which has presented obstacles ...

In chronic lymphocytic leukemia (CLL), certain recurrent genetic alterations are known to influence disease progression and ...

For example, if a protein's activity is dialed ... Ng et al, Proteome-wide assessment of differential missense variant clustering in neurodevelopmental disorders and cancer, Cell Genomics (2025).

A generations-long culture of deep-diving among women on a South Korean Island may have changed their genetic evolution. A study shows potential for medical discoveries.

The Quechua peoples of Peru and Tibetans, for example, possess different mutations to a single gene, but both seem to bestow a greater capacity for altitude tolerance where oxygen levels are lower.