Fig. 1: Comprehensive analysis of germline-somatic interactions in urothelial cancer.
From: Common germline-somatic variant interactions in advanced urothelial cancer
a WES of 157 germline samples from 80 UC patients (WCM-UC cohort) b Somatic variants identified through EXaCT-1 whole-exome sequencing (WES) pipeline using matched tumor-normal samples. c The DGVar framework for the identification of putative deleterious germline variants (pDGVs). d Comparison cohorts: 398 patients from the TCGA-BLCA cohort, and 11,035 noncancer subjects from the SPARK non-cancer cohort. e Functional predictions using CADD scores, three-dimensional modeling of the effects of pDGVs on protein data bank (PDB) structures and somatic LOH analysis f Germline-somatic interactions at the gene and pathway levels.
