Figure 1: Patterns of genetic variation in 60,706 humans.
From: Analysis of protein-coding genetic variation in 60,706 humans
a, The size and diversity of public reference exome data sets. ExAC exceeds previous data sets in size for all studied populations. b, Principal component analysis (PCA) dividing ExAC individuals into five continental populations. PC2 and PC3 are shown; additional PCs are in Extended Data Fig. 5a. c, The allele frequency spectrum of ExAC highlights that the majority of genetic variants are rare and novel (absent from prior databases of genetic variation, such as dbSNP). d, The proportion of possible variation observed by mutational context and functional class. Over half of all possible CpG transitions are observed. Error bars represent standard error of the mean. e, f, The number (e), and frequency distribution (proportion singleton; f) of indels, by size. Compared to in-frame indels, frameshift variants are less common (have a higher proportion of singletons, a proxy for predicted deleteriousness on gene product). Error bars indicate 95% confidence intervals.
