Loss-of-function (LOF) technologies are widely used across many model organisms and many fields. Although all LOF approaches have the shared goal of perturbing gene function, there are complex ...

A new report in the American Journal of Human Genetics describes a novel disorder caused by biallelic loss-of-function variants in the TMEM63B gene, which results in severe lung disease. Researchers ...

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 ...