“…18 Array comparative genomic hybridization was performed with a custom, exome-focused, two million probe Agilent aCGH array; CNVs were called via CNsolidate, a Sanger Centre in-house algorithm that integrates 12 change-point detection algorithms (T. Fitzpatrick, P. Vijayarangakannan, N. Carter, M.E.H., data not shown); uniparental disomy was detected with UPDio. 19 To confirm triplication and AOH independently, samples were run on two different array platforms. For instance, BAB4539 plus parental samples were run on an Affymetrix CytoScan SNP array and samples BAB3922, BAB3923, and BAB3924 plus parental samples were analyzed with A B C Figure 1.…”