Quantitative Identification of Mutant Alleles Derived from Lung Cancer in Plasma Cell-Free DNA via Anomaly Detection Using Deep Sequencing Data
Figure 2
Characteristics of the mutation detection system.
a, Relationship between the average and variance of the substitution error presented as the number per 100,000 reads. Horizontal axis, average; vertical axis, variance. The red line indicates where the average and variance are equal. b, Difference between thresholds calculated according to a negative binomial distribution and a Poisson distribution. The threshold is the minimum number of base changes in 100,000 reads meeting the level of statistical significance (p-0.01). Horizontal axis, variance/average ratio of the substitution read error; vertical axis, difference between thresholds. The types of substitutions whose variance/average ratio ranged from 1 to 2 are plotted. c, Accuracy of quantitation. Each data point represents the average of three assays. Horizontal axis, fraction of mutant alleles in artificial products; vertical axis, fraction of mutant alleles estimated from deep sequencing. d, Reproducibility of quantitation. Horizontal axis, base change rate in the first trial; vertical axis, base change rate in the second trial.