Extended Data Fig. 4: Ratio of observed-to-expected counts of LoF de novo mutations in a cohort of control trios for LoF-2 set genes. | Nature

Extended Data Fig. 4: Ratio of observed-to-expected counts of LoF de novo mutations in a cohort of control trios for LoF-2 set genes.

From: Hotspots of human mutation point to clonal expansions in spermatogonia

Extended Data Fig. 4

The ratio is shown as a function of the LOEUF threshold: we aggregate all genes with LOEUF values lower than the value indicated on the x-axis and calculate the cumulative observed-to-expected ratio. The shaded grey area represents the 95% confidence interval obtained by permuting the LOEUF labels.

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