Extended Data Fig. 8: Characterization of CH derived variants through direct analysis of WBC.
From: High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants
(a) CH-related somatic mutations in the top 14 mutated genes across the 114 non-hypermutated cancer patients and 47 non-cancer controls together with the marginal frequencies by patient (top) and by gene (right). DNMT3A, TET2 and PPM1D are the top mutated genes in WBC and harbor multiple hits (i.e. two or more mutations per patient). (b) Clustering within genes of CH-derived mutations detected in WBC. The clusters and associated p values were computed using a modification of OncodriveCLUST63 which assumes the number of mutations in clusters follows a Poisson distribution. The resulting p values are two-sided. (c, d) Distribution of mutations in PPM1D (c) according to genomic coordinates and for DNMT3A (d). Mutations detected in PPM1D are clustered in the C-terminus of the protein.
