Digest: Few new mutations are recessive lethal.

Abstract

When a new mutation arises, what is the probability that it is recessive lethal? Wade et al. (2023) find that fewer than 1% of nonsynonymous mutations in humans and Drosophila melanogaster are recessive lethal. The authors show that methods based on site frequency spectrum (SFS) analyses, though generally robust in their estimations of the non-lethal distribution of fitness effects (DFE), are unable to accurately estimate the fraction of recessive lethal mutations.