Extended Data Fig. 1: Basic features of clonal hematopoiesis (CH)-related mutations and subclinical atherosclerosis burden in the study population.

We performed deep sequencing to identify somatic mutations in a custom panel of 54 CH-related genes in 3,692 middle-aged individuals from the PESA cohort. a, CH-related genes included in the custom panel. Genes for which a CH mutation was found in at least one individual are underlined and in bold font. Genes typically considered as drivers of myeloid CH (frequently known as CHIP, clonal hematopoiesis of indeterminate potential) or lymphoid-CH are shown separately. b, Assay sensitivity for the detection of CH-related variants at different variant allele fractions (VAF). Dashed lines show the median sequencing depth of our study (3,712x; vertical line), and the sensitivity to detect CH variants at the minimum VAF threshold (0.2%) used to define CH (horizontal lines). c, Graphical representation of the CH-related genes found mutated in the study population; font size is proportional to the frequency of mutations. d, Proportions of different type of mutations in CH-related genes according to their functional consequence. e, Proportions of different types of single nucleotide substitutions. f, Distribution of mutant clone size, assessed as VAF, in DNMT3A (n = 657), TET2 (n = 153) and other sequenced genes (n = 362). The dashed line shows the 2% VAF threshold typically used to identify CHIP. Boxes represent the 25th (Q1), 50th (median) and 75th (Q3) percentiles of the data. Whiskers represent Q1 - 1.5*IQR at the minimum and Q3 + 1.5*IQR at the maximum. g, Proportion of CH-related variants identified after downsampling of sequencing depth to 30x, 100x, 400x and 1,000x. “base” indicates the median sequencing depth for these variants using our original sequencing approach (3,625x); n = 168 CH variants, 28 for each VAF range. h, Number of CH-related variants identified after downsampling to specific sequencing depths.