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Fig. 2 | Journal of Translational Medicine

Fig. 2

From: Benefits of applying molecular barcoding systems are not uniform across different genomic applications

Fig. 2

Input material determines signal and noise levels. A Binomial probability of mutation-bearing molecule detection (color scale) depending on the number of molecules tested (x axis) and the fraction at which mutation is found in the input (y axis); solid line indicates 95% probability; the arrow indicates number of molecules required for 95% probability of detecting mutation present at VAF of 0.1%. B Theoretical number of molecules sequenced depending on the amount of input DNA (x axis) and library conversion rate (y axis); solid line indicates 3000 molecules; arrow indicates input required for 3000 molecules at 50% LCR. C Limit of signal detection in NGS data (LoD, orange line), expressed as minimal VAF that can be reliably detected for true variant calls, is limited by the level of generated noise (blue line); LoD can be decreased by noise suppression with analytical approaches. D Distribution of VAF measured for true signal (left) or noise (right) using hybridization capture assay, in a sample bearing 110 variants at expected frequency of 0.5%, where 12.5 ng (red) or 25 ng (blue, obtained by merging FASTQ files of 12.5 ng replicates) of cfDNA was used as input

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