Figure 2: The impact of very-rare variants on genomic regions and functional categories.
From: Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals
(a) The SFSs of intergenic region for SNVs of 1KJPN (blue) and 1KGP (red). (b) The numbers of SNVs observed in 1KJPN and 1KGP are depicted as four functional categories. The fraction of very-rare variants observed in 1KJPN are depicted with 95% binomial confidence interval according to (c) genomic region, (d) probable consequences for coding regions, (e) in noncoding regions and (f) for scaled C scores. Because the number of genotyped individuals in the confidence SNVs is different among sites because of the individual depth filter, we applied a hypergeometric projection65, which subsamples each variant down to a sample size of 963 (90% of 1,070 samples) to obtain the SFSs of the confidence SNVs for a,c–f.
