Small variations in DNA sequence can alter an organism’s response to the environment or susceptibility to disease. Interpreting the impact of genome sequence variation remains a research challenge.

Blood samples are often used to evaluate gene expression in people. But those samples only provide a snapshot of gene activity at one moment in time. This point has been emphasized by a recent paper ...

Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence (AI) tool that not only identifies disease-causing genetic mutations but also predicts the type ...