health
December 15, 2025
A catalogue of genetic mutations to help pinpoint the cause of diseases
New AI tool classifies the effects of 71 million ‘missense’ mutations Uncovering the root causes of disease is one of the greatest challenges in human genetics. With millions of possible mutations …
TL;DR
- AlphaMissense, an AI model, classifies missense genetic mutations and their potential impact on protein function.
- It categorized 89% of 71 million possible missense variants as likely pathogenic or benign, compared to 0.1% confirmed by experts.
- This classification accelerates research by helping scientists prioritize experiments and understand disease-causing mutations.
- The model is based on AlphaFold and fine-tuned using population frequency data of variants.
- AlphaMissense predictions are made freely available to researchers and for commercial use.
- The tool shows state-of-the-art prediction accuracy, outperforming other computational methods.
- The project aims to improve diagnosis of rare genetic disorders and discover new disease-causing genes.
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