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. 2022 Jul 20;607(7920):732–740. doi: 10.1038/s41586-022-04965-x

Fig. 1. Mutation classes of sequence variants in the UKB.

Fig. 1

a, Fraction of SNPs in each mutation class, for all SNPs in our dataset, singletons in our dataset and in an Icelandic set of de novo mutations (DNMs). b, Saturation levels of mutations in each class, split into singleton variants (blue) and more common variants (red). c, Saturation levels of transitions at methylated CpG sites across genomic annotations and predicted consequence categories. The horizontal line is the average across all methylated CpG sites. The error bars are 95% CIs, which were computed using a normal approximation, treating each CpG site as an independent observation The number of CpG sites used in c are: stop gained n = 46,670, missense n = 669,526, coding n = 1,067,847, splice n = 26,797, 5′ UTR n = 60,885, 3′ UTR n = 508,981, proximal n = 17,722,875 and intergenic n = 15,266,391.