The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome
Fig 2
Expected and observed number of PTVs per gene.
Each dot in the scatter plot corresponds to a gene. X-axis reflects the expected number of PTVs for each gene according to a model of neutral variation based on synonymous variants (Model B, see Methods) while on Y-axis indicates observed number of PTVs in the study dataset. Genes intolerant to heterozygous PTVs with a posterior probability of ≥ 0.99 are colored in red. The distribution shows that there is a continuum of intolerance to PTVs with a general paucity of observed versus expected truncations in the coding genome. The gray line has a slope of 1.