Figure 4

Concordance of PennCNV and MinimumDistance as a function of list size. De novo hemizygous deletions identified by PennCNV and MinimumDistance were ranked by coverage. Plotted on the vertical axis is the proportion of de novo hemizygous deletions identified by both methods as a function of list size. For concordance at the top (CAT), the proportion in common is calculated for the top hits in each list (gray circles). We also plot the proportion of top hits detected by one method that were called de novo by the second method (squares and diamonds). Ranking the MinimumDistance list by the ratio of the maximum a posteriori probability to the posterior probability of diploid copy number improved the concordance (≈ 75%).