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.

Large-scale genetic analysis has helped researchers uncover the interplay between cancer-driving genetic mutations and inherited genetic variants in a rare type of blood cancer. Researchers from the ...

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 ...