DeepMind's New AI Can Predict Genetic Diseases

About 10 years 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. This was, Avsec says, a "needle in a haystack" problem. There were millions of potential culprits lurking in the genetic code--DNA mutations that could wreak havoc on a person's biology. Of particular interest were so-called missense variants: single-letter changes to genetic code that result in a different amino acid being made within a protein.