Figure 3 | Genetics in Medicine

Figure 3

From: Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations

Figure 3

Binomial 95% confidence intervals for the detection of heteroplasmies at differing whole-exome sequence coverage depths. Intervals are shown for total read coverage depths (n) of 10-, 20-, 30-, and 50-fold, with the total range of variant allele counts (v) from 1 to n − 1, and the resulting estimated heteroplasmies (v/n) of between 0.0 and 1.0 (0–100%). The plots demonstrate a reduction in the size of the confidence intervals at increasing exome read depths, indicating that the higher the total depth, the closer the estimated heteroplasmy level is likely to be to the true heteroplasmy level.

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