Figure 5.

Test Sensitivity for Deletions of Different Sizes

Deletions of 3 Mb (A) and 10 Mb (B). The dotted line assumes that the counts follow a binomial distribution, which is the theoretical optimal sensitivity that can be achieved with the read-counting method; the solid line assumes that the counts follow a beta-binomial distribution with $\varphi$ = 10⁻⁸ for the 3 Mb deletion and $\varphi$ = 3 × 10⁻⁸ for the 10 Mb deletion. $\varphi$ is the over-dispersion parameter, and it captures the additional variance in the counts. The $\varphi$ we used in the simulation was derived from our dataset.