Molecular disease mechanisms caused by mutations in protein-coding regions are diverse, but they can be broadly categorised into loss-of-function, gain-of-function and dominant-negative effects.

Analysis of thousands of human tumors has led to the identification of recurrently mutated oncogenes and tumor suppressors (TSG) 1. In breast cancer, 99 such genes are thought to play a particularly ...

In a novel study, researchers from the Icahn School of Medicine at Mount Sinai introduced LoGoFunc, an advanced computational tool that predicts pathogenic gain- and loss-of-function variants across ...

In recent years, the use of computer algorithms for identifying specific objects within images, called “image segmentation,” has become popular in medical image analysis, helping doctors diagnose ...