Figure 2.

smMIP capture performance and detection of low-frequency variation. (A) Distributions of minimum coverage in a given percentile of total targeted coding positions, rank-ordered by smc-read coverage, for eight HapMap cell line (red) and 45 clinical cancer (blue and green) samples (box plot center line: median; top and bottom edges: quartiles; whiskers: farthest data point within 150% of interquartile range; dots: outliers). Zeroth-percentile indicates maximum coverage. (B) Distributions of fraction of coding positions above a given smc-read coverage cutoff. (C) Observed versus expected variant frequency in smc-read base-calls from mixtures of HapMap genomic DNA samples at known ratios for positions with at least 100× coverage (R = 0.94). Ideal performance is shown as gray line (y = x).