Blog post by Ben Neale about the interpretations of de-novo mutations when doing…

Blog post by Ben Neale about the interpretations of de-novo mutations when doing disease genetics (in this case autism).

Talking about expected de-novo mutations per person:

"As a consequence, protein-coding sequences are inherently more mutable. Taking this into account, the expected number of de novo events per person in the exome is a shade over 1. However, current exome sequencing technologies do not capture all regions equally well (and some regions aren’t captured at all), which revises down the expectation to 0.87 per person.

It’s worth emphasizing these numbers: that means the majority of people who have their exome sequenced will be found to carry at least one de novo mutation in a protein-coding gene, even if they are perfectly healthy. That means that human geneticists must be extremely cautious in assigning disease-causing status to such mutations."