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

Table 2 CNV simulations demonstrate high analytical sensitivity

	Deletions					Duplications						Overall Sensitivity (weighted)
Size (exons)	1	2	3	4	5	1	2	3	4	5	Exon 11–12	Overall Sensitivity (weighted)
Sensitivity	88.9%	99.2%	100%	100%	100%	70.0%	93.8%	99.3%	100%	100%	100%	96.7%
Weights	26%	21%	8%	15%	26%	0%	4%	0%	0%	0%	n/a

ISSN: 1471-2350