AI Learns to Spot Cancer Causing Mutations

A new deep learning model called MutSig AtlasAI is changing how we understand cancer. Built by researchers at the Broad Institute and MIT, it looks at tumor DNA from thousands of patients and learns to tell which mutations actually help the tumor grow, the so called drivers, and which ones are harmless.

Most mutations in cancer are just along for the ride. The hard part is figuring out which ones matter. This tool makes that easier. It uses not just how often a mutation appears, but also where it is in the gene, how it affects protein structure, and how evolution has treated that part of the genome. It also works across different cancer types, including rare and understudied ones.

In tests, it found new driver mutations that older methods missed, especially in cancers like bile duct and soft tissue sarcomas. The model is open source and ready for other scientists to build on, making it a potentially powerful step forward in precision cancer treatment.

https://www.broadinstitute.org/news/machine-learning-tool-pinpoints-cancer-driver-mutations