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Fig. 5 | Genome Medicine

Fig. 5

From: Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance

Fig. 5

Proportion of genes with pLoFs in each cluster, including subsets of disease genes, locations of possible pLoFs, and simulation analyses. The relative proportion of genes where pLoFs are included in each of the six clusters with at least five pLoF variants is shown for different sets of genes, locations of possible pLoFs, and simulations: all (all genes with at least five pLoFs, N = 15,874), AD-DD G2P genes (genes where pLoFs cause developmental delay through haploinsufficiency, N = 217), AR-DD G2P genes (genes where pLoFs cause developmental delay through recessive mechanisms, N = 889), other AD G2P genes (genes where pLoFs cause adult onset diseases, including cancer syndromes and heritable cardiac, eye or skin conditions through haploinsufficiency, N = 98), other AR G2P genes (genes where pLoFs cause adult onset diseases through recessive mechanisms, N = 222), genes with high probability of LoF intolerance (pLI from gnomAD v2.1.1 [16]) scores > 0.9 (N = 2097), loss-of-function observed/expected upper bound fraction (LOEUF from gnomAD v2.1.1 [15]) score < 0.6 (N = 4475), possible LoF variants based on the underlying sequence of each gene (N = 15,874), simulations of all genes (simulated genes matched to the number of pLoFs in each gene in UKB, N = 15,874), and simulations of AD-DD genes (simulated genes matched to the number of pLoFs in AD-DD genes in UKB, N = 217). AD, autosomal dominant; AR, autosomal recessive

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