In a recent study published in Nature Genetics, a group of researchers advanced variant effect prediction across the human proteome by integrating deep evolutionary signals with human population ...

The Human Domainome 1—the largest library of human protein variants—reveals the cause of certain genetic disorders, paving the way for personalized medicines. “We measured every possible mutation in ...

Missense variants remain a challenge in genetic interpretation due to their subtle and context-dependent effects. While current prediction models perform well in known disease genes, generalizability ...