Extended Data Fig. 8: Compound heterozygous identification in the UK Biobank WES data phased with Beagle5.4.
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) Number of compound heterozygous events (N = 374,826 individuals). (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 genes with ≥2 LoF mutations. X-axis is capped at −6. (d) Same as previous, but across lists of non-essential genes.
