DNA damage is a threat to genome integrity and can be a cause of many human diseases, owing to either changes in the chemical structure of DNA or conversion of the damage into a mutation, that is, a ...

Germline de novo mutations (DNMs), which occur either during gametogenesis or post-zygotically, are crucial for evolution and play important roles in many human diseases 1. Average de novo mutation ...

In simple terms: a mutation is a stable change in genetic sequence that can be copied when cells or viruses replicate. Most mutations have no detectable effect, some contribute to disease, and a small ...