From Mouse to Human: Evolutionary Genomics Analysis of Human Orthologs of Essential Genes
Figure 2
Population genetics properties of essential genes.
A) Average numbers of exonic missense variants in EG, NLG and ALL. The plotted Z-score is normalized relative to the genome average. The plotted range is truncated to visualize differences between gene sets, with a full log-transformed plot available in Figure S7. B) Differences in the allele frequency distributions in four continental populations of the 1000G data for EG, NLG and ALL. A data point above the zero line corresponds to a relative excess of variants of a given allele frequency. It can be seen that the essential genes contain significantly more rare variants than either NLG or ALL. The reported p-values are with respect to all 1000 Genome samples combined.