Fig. 1: Mutational survival bias generates constraint.
From: The evolutionary impact of childhood cancer on the human gene pool
A Simplified illustration of survival bias of genomic variation; variants without reproduction-limiting effects survive, while variants limiting reproduction perish. This drives mutational constraint, which may be used for inferences of variant tolerances. Created with BioRender.com. B Purely illustrative examples of the definitions of mutational constraint used in the literature and/or in this study (not showing constraints of an actual gene). LOE refers to the specific ratio of observed vs. expected number of loss-of-function variants. LOELF and LOEUF, refer to the lower and upper bound fraction of the 90% confidence interval of the LOE score, respectively.
