Fig. 1

Schematic of cohorts derived from the clinical testing population. The schematic shows datasets derived from the Signature Genomics clinical testing population including the filtering of CNV calls to remove false-positive detection. Note that CNVs were removed if there was a >10 % overlap with a list of artifact CNV calls (Additional file 1: Table S2). Rare CNVs were derived after removing the CNV calls greater than 0.1 % frequency in a control cohort (>8/8,329 controls)