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Fig. 5 | Clinical Epigenetics

Fig. 5

From: Aortic disease and cardiomyopathy in patients with a novel DNMT3A gene variant causing Tatton-Brown–Rahman syndrome

Fig. 5

Blood cfDNA of TBRS patient 2 nanopore sequencing and analysis. A cfDNA fragment density plot. Fragment size distribution is compared among the TBRS patient, seven samples of healthy individuals and six lung adenocarcinoma patients (LuAd). Sample S1 represents a lung adenocarcinoma patient whose cfDNA library was prepared in the most similar fashion to that of TBRS. B Cell origin deconvolution of cfDNA reads using the Moss et al. [40] method to determine the cellular source of cfDNA fragments. TBRS patient results are compared to six healthy (H1-6) individuals from Katsman et al., 2022 study [39]

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