Link: Minutes of the mutation rate meeting

less than 1 minute read

Iain Mathieson shares his notes on a recent meeting of scientists investigating mutation rate estimation in humans: “The human mutation rate meeting”.

The two recombination-based methods presented agreed that μ≈1.65×10−8. However, many pedigree and trio based studies seem to converge on μ=1.2×10−8. Most people seemed to think that the pedigree studies are undercalling mutations, but there was no clear explanation or evidence for that. On the other hand, calibration using ancient DNA from the directly dated Ust’-Ishim sample presented by Qiaomei Fu suggested a lower rate of around ν=0.4×10−9, consistent with the pedigree estimates. This leaves us with something like a 25% discrepancy which needs to be explained.

This is a topic of long-term interest here (“What is the human mutation rate?”). I don’t have time to write up any extensive thoughts about the mutation rate now (or to fix the references in the older posts) but it’s interesting to see people talking seriously about a mutation rate slowdown in the African apes.