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.

Two complementary genome-wide association studies provide new insights into how host genetics influence the human gut microbiome.

Researchers use long-read genome sequencing to discover 33% more structural variants and 38% more tandem repeats linked to autism spectrum disorder.

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 ...

Genetic testing for chronic myeloid leukemia (CML) can tell doctors if someone has leukemia, what type they may have, and whether treatment is working. The tests look for atypical changes in certain ...