Fig. 1: Tumor-informed ctDNA analysis for monitoring of tumor burden in RMS.

A Proportion of targeted SNVs characterized as Synonymous and Non-Synonymous variants used in personalized ctDNA panels. B Sequencing depth. Each datapoint represents the mean number of raw reads at each SNV position (regardless of UMIs) for one plasma sample (n = 123). Median, 18,787. C Average number of consensus reads per assay and plasma sample (n = 123). Median, 1,537. D Correlation between the total number of consensus reads in ten assays/sample and cfDNA concentration/mL plasma, Spearman correlation coefficient is shown (n = 130). E Levels of cfDNA at time of diagnosis in children with metastatic (n = 2) and localized (n = 8) RMS. F Levels of ctDNA at time of diagnosis in children with metastatic (n = 2) and localized (n = 8) RMS. MTM was defined as a consensus read harboring a tumor-specific SNV. G Correlation between cfDNA concentration and tumor volume at diagnosis in patients with localized RMS (n = 8). The Spearman correlation coefficient is shown. H Correlation between ctDNA concentration and tumor volume at diagnosis in patients with localized RMS (n = 8). The Spearman correlation coefficient is shown. I Total levels of ctDNA over time in twelve RMS patients.