Fig. 3.

MONTAGE Filtering to Arrive at Curated Callset. Filtering of the putative mosaic CNV calls and respective size of the curated callset at each step. PennCNV calls for homozygous deletions (copy number 0) on the same samples analyzed by MONTAGE were intersected with MONTAGE initial mosaic calls using bedtools software. Further visualization of BAF/LRR underlying potential mosaic CNV calls was conducted manually by a human expert reviewer (in the case only 1 mosaic call in the sample) or by DeepCNV algorithm (in the case 2 or more mosaic calls in the sample)