Spain and Shakeshaft aren't relevant. Marioni is interesting, but I think 1% is way too high a cutoff.
Spain and Shakeshaft aren't relevant.
Sure they are. The mutations involved in mutation load are, almost by definition, rare; if they were singly or in aggregate with large effects, that should show up in surveys on the high end. Instead, we just get that with the low end, which is consistent with there being occasional very rare or de novo mutations which can drastically reduce below average, but not that they will increase multiple or many SDs for the above average who already escaped the retardation-bullets.
This thread is for asking any questions that might seem obvious, tangential, silly or what-have-you. Don't be shy, everyone has holes in their knowledge, though the fewer and the smaller we can make them, the better.
Please be respectful of other people's admitting ignorance and don't mock them for it, as they're doing a noble thing.