The mutation rate of a specific position in the human genome depends on the sequence context surrounding it. Modeling the mutation rate by estimating a rate for each possible k-mer, however, only ...

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 ...

Cancer is frequently driven by genetic aberrations, making functional genomics crucial for interpreting cancer genome data to understand the biological impact of each individual mutation and to ...

A groundbreaking study published in this week’s issue of PNAS by scientists from Israel and Ghana shows that an evolutionarily significant mutation in the human APOL1 gene arises not randomly but more ...