Extended Data Fig. 3: Stability of LoF-2 set with respect to the metric of loss-of-function constraint.
From: Hotspots of human mutation point to clonal expansions in spermatogonia
(a) Observed-to-expected variant count ratio (o/e) for de novo LoFs in genes with FDR < 0.1 in the neurodevelopmental disorder cohort (NDD) merged with the autism spectrum disorder (ASD) cohort plotted against the Loss-of-function Observed/Expected Lower-bound Fraction (LOELF) scores. The dashed violet line indicates the minimal LOELF value across LoF-2 genes of 0.23. LoF-2 genes are shown in violet, LoF-1 genes are shown in red, genes above the chosen LOELF threshold but not included in the LoF-2 set (SHANK3 and ZMYM2) are shown in black. (b) Same as in (a), but for the Loss-of-function Observed/Expected (LOE) metric. The upper bound for LOE (shown as violet dashed line) is 0.355.
