A new human population genomics study leverages family relatedness to identify and characterize homozygous loss-of-function mutations, with implications for interpreting disease-associated genetic ...

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 ...

A new study identifies molecular factors that promote small vessel disease—and an active drug that can restore impaired vascular functions.