RARE Daily

AI Tool Classifies the Effects of 71 Million Missense Mutations

September 19, 2023

Rare Daily Staff

Google DeepMind has released the AlphaMissense catalogue, which used an AI model to categorize 89 percent of all 71 million possible missense variants as likely pathogenic or likely benign.

Missense variants are genetic mutations that can affect the function of human proteins. In some cases, they can lead to diseases such as cystic fibrosis, sickle-cell anemia, or cancer.

In a blog entry on the Google DeepMind website, the company said only 0.1 percent of missense mutations have been confirmed by human experts.

“AI tools that can accurately predict the effect of variants have the power to accelerate research across fields from molecular biology to clinical and statistical genetics,” the blog said. “Experiments to uncover disease-causing mutations are expensive and laborious – every protein is unique and each experiment has to be designed separately, which can take months. By using AI predictions, researchers can get a preview of results for thousands of proteins at a time, which can help to prioritize resources and accelerate more complex studies.

The average person has more than 9,000 missense variants. Most are benign, but others can disrupt protein function. Missense variants can be used in the diagnosis of rare genetic diseases, where a few or even a single missense variant may directly cause disease.

Google DeepMind is making its predictions available to the research community for free as well as the open source model code for AlphaMissense.

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