Figure 1

The sensitivity of copy number (CN) and mutation analysis by digital PCR (dPCR) and target sequencing. (a) LNCaP (AR CN neutral) genomic DNA (gDNA) was spiked with VCaP (AR amplified) gDNA in serial dilution. AR amplification could be detected by dPCR even when VCaP gDNA was diluted to 1.0%. Stars (p < 0.01* and p = 0.015**) indicate that AR CN in diluted VCaP gDNA are significantly higher than that in LNCaP gDNA by the Student’s t-test (n = 3). (b) gDNA from healthy males (AR wild type) was spiked with LNCaP (AR T878A mutated) gDNA in serial dilution. The AR T878A mutation could be detected at 0.1% dilution by dPCR. Stars (p < 0.01* and p = 0.014**) indicate that the mutation rates in diluted LNCaP gDNA were significantly higher than those observed in gDNA from healthy males by the Student’s t-test (n = 3). (c) Scatter plots of dPCR analysis for the gDNA from healthy males spiked with 0.1% LNCaP gDNA. The mutation detection rate was 0.09%. The blue dots show positive droplets for the AR T878A mutation. The red dots show positive droplets for the AR wild type. The yellow dots show empty droplets. (d) AR target sequencing for gDNA from healthy males spiked with LNCaP gDNA in serial dilution. AR T878A mutation could be detected up to 1.0% dilution. All error bars indicate standard deviation.