DeepMind AI predicts millions of harmful DNA mutations

20 Sep 2023

Image: © Giovanni Cancemi/

The company has released a catalogue of 71m ‘missense’ mutations and claims its AI model categorised most of these as likely pathogenic or likely benign.

Google-owned DeepMind claims it has made another scientific breakthrough, with a massive catalogue of genetic mutations that could speed up disease diagnosis.

The company has released a catalogue of 71m ‘missense’ mutations, which are genetic mutations in DNA that can alter the function of certain proteins. DeepMind said that in some cases these mutations can lead to diseases such as cystic fibrosis, sickle-cell anaemia and cancer.

“With millions of possible mutations and limited experimental data, it’s largely still a mystery which ones could give rise to disease,” DeepMind said in a blogpost. “This knowledge is crucial to faster diagnosis and developing life-saving treatments.”

The company claims its latest AI model – AlphaMissense – was able to categorise 89pc of these 71m mutations as “either likely pathogenic or likely benign”. DeepMind also claims this is a significant leap, as only 0.1pc of these possible missense variants have been confirmed by human experts.

DeepMind has made its predictions freely available and also claims to have made its AlphaMissense model open source. This model is based on the AI system AlphaFold, which predicted the structure of more than 200m proteins last year.

The Google-owned company used the result to push the power of AI tools and said they could accelerate research “across fields from molecular biology to clinical and statistical genetics”.

“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,” DeepMind said. “By using AI predictions, researchers can get a preview of results for thousands of proteins at a time, which can help to prioritise resources and accelerate more complex studies.”

Earlier this year, Google merged DeepMind with Google Brain to streamline the search giant’s AI efforts. Google has been trying to keep up with competitors in the race to build the best AI systems, especially in the generative AI space, ever since ChatGPT took the world by storm and rival search engine Bing was infused with OpenAI’s popular chatbot.

Earlier this week, Google revealed that its AI chatbot Bard can integrate with a user’s emails, documents and other files saved on the cloud to give personalised answers to questions.

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Leigh Mc Gowran is a journalist with Silicon Republic