Among the “first tier” of predicted deletions, we found that 55 of 58 individual (i.e. sample-level) predictions validated, with at least one validated event for all 10 examined genes, and for the “second tier,” we found that 25 of 40 predictions validated across seven of the nine examined genes. A total of 44 of the validated deletions spanned only a single probe on the originally used array (Supplementary Figure 7). Deletion events at three genes were determined to be polymorphisms42–44. Interestingly, we found PARK2 to contain at least six distinct exon-affecting deletions ranging in size from 118 to 315 kbp (Figure 4, Supplementary Note, Supplementary Figure 8). However, there is no evidence for CNV enrichment at this locus among cases as this phenomenon also holds true for control samples (Supplementary Figure 9), suggesting that PARK2 is a fragile gene prone to recurrent deletion events. We also identified small deletions in TBX5, a gene known to cause Holt-Oram syndrome45 (a disorder characterized by upper limb abnormalities and congenital heart defects; OMIM #142900). We found that 7 of 15 samples predicted to
