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Fig. 5 | BMC Medical Genetics

Fig. 5

From: Detecting clinically actionable variants in the 3′ exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene

Fig. 5

Hybrid capture, LR-PCR, and MLPA are concordant for CNVs. a All CNVs called in the hybrid capture data and corresponding orthogonal confirmation data. b Hybrid capture data for the patient sample with an exon 13–14 deletion depicts copy-number estimates across the locus (bins). Gray regions denote the last four exons of PMS2. White regions denote introns. Yellow box indicates region of the CNV call. c MLPA data for the exon 13–14 deletion patient sample. PMS2-specific (solid blue), PMS2CL-specific (solid red), and PMS2/PMS2CL degenerate MLPA probes (blue and red stripes) show the deletion in exons 13–14 of PMS2CL. d LR-PCR data for the exon 13–14 deletion sample depicting copy number estimates across the locus (bins) for PMS2 (blue, top) and PMS2CL (red, bottom). Gray regions depict exons 11–15 of PMS2 and white regions depict introns as in (b)

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