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 ...

Detecting mutations from single DNA molecules is crucial in many fields but challenging. Next-generation sequencing (NGS) affords tremendous throughput but cannot directly sequence double-stranded DNA ...

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 ...

Artificial Intelligence (AI) has become a potent tool in identifying genetic mutations. By leveraging AI capabilities, scientists can rapidly and accurately analyze vast amounts of data. This ...