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Figure 3 | BMC Genomics

Figure 3

From: Population-based rare variant detection via pooled exome or custom hybridization capture with or without individual indexing

Figure 3

Sensitivity as a function of total paired-end read counts at different coverage thresholds for all variants in the sets of 48 multiplexed samples. This graph shows how the sensitivity increases per the number of reads for a given sample with a shallow increase at 5-fold coverage after a sample reaches 1.8 million reads. Sensitivity is defined as the percentage of heterozygous or homozygous variant genotypes as seen by the array called correctly as heterozygous or homozygous by sequencing. Red symbols: ≥3x coverage. Green symbols: ≥5x coverage. Blue symbols: ≥10x coverage. Brown symbols: ≥15x coverage. Black symbols: ≥20x coverage. Trend lines were generated using the “lowess” function in R with default parameters. The sensitivity appears to plateau at around 1.8 million reads, which is prior to excluding duplicate reads and reads that align off-target. PE = paired-end.

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