Fig. 3: Overview of replicated associations at a false discovery rate (FDR) of 1%.
From: The impact of rare germline variants on human somatic mutation processes
Gene-cancer type pairs (x-axis) and the somatic mutational component (y-axis 1st column) for which the association replicated at a 1% FDR. Corresponding rare putative loss-of-function (pLoF) variant set(s) are shown in each tile, where symbols and color code denote model(s) of inheritance by which they associated. Further, each tile shows the number of individuals carrying rare pLoF variants (2nd and 3rd column) or rare pLoF variants + somatic LOH (4th and 5th column) for the corresponding rare pLoF variant set associated. Gene–phenotype associations that have been previously identified are highlighted (pink for deficient DNA mismatch repair (dMMR) and orange for deficient homologous recombination (dHR)). Underlying data are provided as a Source Data file.
