In a feat to fast-track research and diagnosis of rare disorders, Google’s DeepMind has created an AI program that can asses whether millions of genetic mutations are harmless or not.
The program can assess missense mutations, where a single letter is misspelled in the genetic (DNA) code, and can predict which of the 9,000 genetic mutations are harmful and which aren’t. If these mutations turn out to be harmful they can cause issues like, cystic fibrosis and sickle-cell anemia to cancer and problems with brain development.
The AI program that goes by the name AlphaMissense has been released as a free online catalog so, the predictions can help geneticists and clinicians study how mutations drive diseases or diagnose patients who have rare disorders.
Writing in Science Dr Jun Cheng stated “This (the AI program) is very similar to human language. If we substitute a word in an English sentence, a person familiar with English can immediately see whether the word substitution will change the meaning of the sentence or not.”
He also wrote how he is positive that AlphaMissense is better than current “variant effect predictor” programs and can help quickly identify mutations that are driving diseases
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