AI accurately predicts effects of genetic mutations in biological dark matter

(Simons Foundation) A new machine learning framework, dubbed ExPecto, can predict the effects of genetic mutations in the so-called 'dark matter' regions of the human genome. ExPecto pinpoints how specific mutations can disrupt the way genes express throughout your body. Using the method, its creators computed the genetic ramifications of more than 140 million mutations in different tissues. The researchers also precisely pinpointed mutations potentially responsible for increasing the risk of several immune-related diseases, including Crohn's disease.