Table 1.

Performance characteristics of the NGS test. PPV, positive predictive value; NPV, negative predictive value; CNV, copy number variant

Variant type	True positives	True negatives	False positives	False negatives
snp	4578	257,918	2	40
Indel	137	2106	0	13
Variant type	Accuracy	Sensitivity	Specificity	PPV	NPV
snp	99.98%	99.13%	99.98%	99.96%	99.98%
Indel	99.42%	91.33%	99.39%	100.00%	99.39%
Batch type	Concordant	Discordant	Concordance
Intra-batch	588	17	97.19%
Inter-batch	427	28	93.85%