Cancers exhibit extensive mutational heterogeneity, and the resulting long-tail phenomenon complicates the discovery of genes and pathways that are significantly mutated in cancer. We perform a ...

Harlequin ichthyosis is an extremely rare genetic mutation that affects the skin. Infants who are born with the condition are covered with a hard and very thick layer of skin, that has deep cracks.

From the very name of the syndrome, you can guess in what way it affects those who are diagnosed with it. Werewolf syndrome ranks third on our list of uncommon genetic mutations in humans. It is ...

The risk of older fathers passing on disease-causing mutations to their children is higher than we thought. Genome sequencing has revealed that among men in their early thirties, around 1 in 50 sperm ...