The Tasmanian Tiger.
Missense variants.
1. Deep Mind:
Uncovering the root causes of disease is one of the greatest challenges in human genetics. With millions of possible mutations and limited experimental data, it’s largely still a mystery which ones could give rise to disease. This knowledge is crucial to faster diagnosis and developing life-saving treatments.
Today, we’re releasing a catalogue of ‘missense’ mutations where researchers can learn more about what effect they may have. 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 anaemia, or cancer.
The AlphaMissense catalogue was developed using AlphaMissense, our new AI model which classifies missense variants. In a paper published in Science, we show it categorized 89% of all 71 million possible missense variants as either likely pathogenic or likely benign. By contrast, only 0.1% have been confirmed by human experts. (Source: deepmind.com)
Keep reading with a 7-day free trial
Subscribe to News Items to keep reading this post and get 7 days of free access to the full post archives.