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.

Late-onset Alzheimer's disease is a debilitating, progressive neurodegenerative disease that affects about 7 million Americans, a figure that is expected to nearly double by 2050, according to 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 ...

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 ...

A genetic predisposition to having lower insulin production and less healthy fat distribution are major causes of early-onset type 2 diabetes in British Asian people. According to new research from ...