🧬 New AI predicts genetic diseases

• DeepMind launches AlphaMissense, accelerating genetic mutation analysis.
• The tool predicts disease-causing likelihood of mutations with 90 percent accuracy.
• Built on AlphaFold's legacy, it aids genomics researchers in diagnosing diseases and finding treatments faster.

The challenge of missense variants

Missense variants, changes in the genetic code that lead to a different amino acid formation in proteins, are crucial in human biology. These tiny variations have the potential to cause vast biological disruptions.

With 71 million possible missense variants and each individual carrying over 9,000, determining which ones are harmful has remained a significant challenge.

Of the 4 million identified missense variants, a mere 2 percent have been definitively classified.

Introducing AlphaMissense

Google DeepMind's new tool, AlphaMissense, is set to change the way we understand these genetic changes.

Unlike its predecessor, AlphaFold, which predicted protein structures, AlphaMissense operates more like a language model, such as ChatGPT. Specifically trained in the language of biology, it identifies anomalies in amino acid sequences, akin to spotting an out-of-place word in a sentence.

By collaborating with Genomics England, DeepMind has validated AlphaMissense's predictions with real-world genetic data, boasting a 90 percent accuracy.

The tool promises to aid researchers in swiftly pinpointing disease-causing variants and thereby speeding up the development of potential treatments.

Beyond a single tool

The introduction of AlphaMissense underscores the growing role of AI in biology. Rooted in the foundational knowledge from AlphaFold, it represents the vast potential of AI models to delve deeper into understanding the intricacies of our genome.

AlphaFold has a very interesting history. Be sure to check it out.

🧬 From games to science breakthrough - the story of AlphaFold

The history of computers competing against humans is long, and often attracts enormous attention. But what is it good for? What does it matter if a computer can win in chess, Go, or Starcraft? We got the answer when AlphaFold solved a 50-year old grand challenge in biology.

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🧫 An incredible breakthrough – which almost no one has heard of

Humans have struggled with one of the grand challenges of biology, namely understanding how proteins are designed. Suddenly, last year, it was solved by an AI. The event happened to be the start of something even greater…

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