Extended Data Figure 1 : pLoF mutations are typically seen in very few individuals.

From: Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

Extended Data Figure 1

The site-frequency spectrum of synonymous, missense, and high-confidence pLoF mutations is represented. Points represent the proportion of variants within a 1 × 10−4 minor allele frequency bin for each variant category. Lines represent the cumulative proportions of variants categories. The bottom inset highlights that most pLoF variants are often seen in no more than one or two individuals. The top inset highlights that virtually all pLoF mutations are very rare.