Figure 5

Detection of low-level mosaic abnormalities in AGRE - Regions 1–4. triPOD was compared to BAFsegmentation, genoCNA, MAD, PennCNV joint, and PSCN for detection of large low-level mosaic abnormalities in the AGRE autism dataset. Plots of Regions 1–4 are shown for samples AU031003, AU036104, AU051503, and AU068604. For each sample, the top panel is a plot of the LRR values with the moving average (25 SNPs) highlighted in green. The middle panel is a plot of the BAF values with dashed horizontal lines at 0.35 and 0.65 to improve visualization of mosaic splitting of the heterozygous BAF band. The red vertical dashed line indicates the region boundary as detected by our CUSUM-based approach. The lower panel is a graphical representation of the regions detected by each of the six programs. Regions detected by triPOD are colored based on parental contribution: blue = paternal contribution, red = maternal contribution, black = abnormal biparental or undetermined contribution.