Extended Data Fig. 9: Comparison of compound heterozygous results with LoF, missense or synonymous variants.
From: Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank
(a) Number of genes with a compound heterozygous event in at least one individual (N = 374,826 individuals). (b) From a total of 18,595 protein coding genes, number of genes with compound heterozygous events (blue), number of genes with individuals with ≥2 mutations but found only in one haplotype (orange), number of genes for which individuals with ≥2 mutations did not occur (green). (c) Two-way Fisher’s Exact test odds ratios ± 95% confidence interval (log2-scaled) of compound heterozygous genes versus non-compound heterozygous genes presence in multiple lists of essential genes (see Methods). Background is composed of 17,679 genes with ≥2 LoF mutations. X-axis is capped at −6. (d) Same as previous, but across lists of non-essential genes.
