DeepMind’s New AI Can Predict Genetic Diseases

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DeepMind’s New AI Can Predict Genetic Diseases
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AlphaMissense, a new model from Google’s artificial intelligence team, analyzes the effects of DNA mutations and will accelerate research into rare diseases.

ago, Žiga Avsec was a PhD physics student who found himself taking a crash course in genomics via a university module on machine learning. He was soon working in a lab that studied rare diseases, on a project aiming to pin down the exact genetic mutation that caused an unusual mitochondrial disease.

Of the 4 million missense variants that have been spotted in humans, only 2 percent have been categorized as either pathogenic or benign, through years of painstaking and expensive research. It can take months to study the effect of a single missense variant. Pushmeet Kohli, DeepMind’s vice president of research, uses the analogy of a recipe book. If AlphaFold was concerned with exactly how ingredients might bind together, AlphaMissense predicts what might happen if you use the wrong ingredient entirely.

The researchers stress that the predictions should not be used on their own, but only to guide real-world research: AlphaMissense could help researchers prioritize the slow process of matching genetic mutations to diseases by quickly ruling out unlikely culprits. It could also help improve our understanding of overlooked areas of our genetic code: The model includes an “essentiality” metric for each gene—a measure of how vital it is to human survival.

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