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Fig. 5 | BMC Medical Genomics

Fig. 5

From: Identification of single nucleotide variants using position-specific error estimation in deep sequencing data

Fig. 5

Validating AmpliSolve performance with ddPCR experiments. a Venn diagram of mutations in 96 samples at 3 positions as determined by AmpliSolve and ddPCR experiments. False positives refer to variants called by AmpliSolve and not detected by ddPCR, false negatives the opposite. In 256 out of 288 cases neither AmpliSolve nor ddPCR detect a mutation. b Scatter plot of the VAFs in the ddPCR and Ion Torrent data. Most of the SNVs missed by AmpliSolve (green points) have some support in the NGS data but they cannot be distinguished from noise. Because of the log scale, we arbitrarily set AF = 10− 4 for negative calls with AF = 0. Similarly, we set AF = 1 for ddPCR calls for which no allele frequency information is available

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