Copy Number Variation (CNV) analysis
Patients with no positive findings in SNV analysis or those who had
monoallelic variants were further analyzed for CNV events using the Ion
Reporter CNV caller tool. Depth of coverage data were retrieved from BAM
files and normalized against a reference set of 100 normal controls.
CNVs overlapping MPS genes were individually reviewed and prioritized
if: they had deletion status; passed quality metrics set by the
software; and were not shared by several patients. Identified CNVs were
validated using multiplex PCRs targeting exons overlapping CNVs as well
as non-deleted exons flanking the CNV.