Fig. 3

Simulating mCNVs enables thorough performance analysis. a Simulated bin-level copy-number trace for a simulated sample containing an mCNV on chr21 (red) is highly similar to the trace for an observed sample (gray) with a similar maternal variant. b The probability distribution of copy-number values for bins within mCNVs is similar for simulated (red) and observed (gray) samples. c There is a similar upward trend in z-scores for observed (gray; N = 38,102 data points from 87,255 samples) and simulated (red; N = 30,887 data points, one per simulation) samples that have a maternal duplication of the indicated size on autosomes (“Simple” method). The solid line is a rolling median of 500 adjacent data points. Z-scores are capped at 9 in the plot only for visualization purposes