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[Preprint]. 2024 Oct 29:2024.10.27.620363. [Version 1] doi: 10.1101/2024.10.27.620363

Fig. 3. Systematic Workflow for CNV Analysis in PIDD Cohort with Stepwise Filtering and Manual Inspection.

Fig. 3

a) Detailed workflow for the genomic analysis in PIDD cohort consisting of 39 trios. Targeted CNV analysis identified 95 candidate CNVs, which were filtered by removing polymorphic CNVs present in more than five families, resulting in one potential contributing CNV (DOCK8, MIM#243700). De novo analysis identified seven candidate CNVs, which were further inspected using VizCNV and IGV, narrowing down to two de novo CNVs, with one potential contributing CNV (CSMD1). b) Average count of CNV candidates per family progressing through each stage of the selection process.