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Fig. 4 | BMC Bioinformatics

Fig. 4

From: Rare variant phasing using paired tumor:normal sequence data

Fig. 4

Leveraging Phase to Identify Cancer Predisposing Germline Variation. Association between germline compound heterozygosity events and non-compensatory cis variants and age of diagnosis. a-b Age of cancer diagnosis Z-score in n= 6093 TCGA individuals grouped by type of germline alteration in a set of 144 cancer predisposition genes. a Individuals were grouped into four hierarchical mutually exclusive groups based on compound heterozygosity status: those carrying a compound heterozygosity event (Trans), those with two or more phased CADD damaging variants in the same gene copy (Cis), those carrying mono-allelic ClinVar pathogenic or loss-of-function variants (ClinVar/LOF), and those carrying mono-allelic CADD damaging variants (CADD). b Individuals were grouped using HMMvar cis variant scores: those carrying a non-compensatory variant set (Non-Compensatory), those carrying a compensatory variant set (Compensatory), those carrying mono-allelic ClinVar pathogenic or loss-of-function variants (ClinVar/LOF), and those carrying mono-allelic CADD damaging variants (CADD). The number of samples is shown in parentheses. * = p<‚ÄČ0.05; p-values were determined using a linear model to predict age of diagnosis while accounting for cancer type

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