Just as ChatGPT can learn how to predict human speech by having engineers feed it a wealth of text, the new algorithm has been trained to make medical predictions based on reading genomes.
The research marks a critical step toward harnessing the full power of the genome for medicine, and it demonstrates a new way artificial intelligence can be applied to problems in human health, experts said.
Farh and an international team of almost 100 researchers created an algorithm designed to help medicine clear up some of the uncertainty. “We are aiming to eliminate variants of unknown significance, which is the main barrier to unlocking the value of genomic medicine,” Farh said. Until now, hospitals examining genetic variants in their patients have often consulted a large archive called ClinVar. The new PrimateAI-3D algorithm scans about 70 million genetic variants, a selection that is more than 1,000 times as large as ClinVar, Farh said.
Matthew Lebo, who directs the Laboratory for Molecular Medicine at Mass General Brigham, said that PrimateAI-3D won’t eliminate the problem of finding variants of unknown significance, but it will help doctors to prioritize the variants they are investigating for a specific disease.The new tool should also help pharmaceutical companies in their search for new drugs. Clinical trials often fail because the gene scientists are targeting is “incorrect, and not relevant to disease,” Farh said.
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