TABLE 1.

Analytical performance validation.

	Metrics	Results
Single Nucleotide Variants (SNV)	True Positives = 164	False Negatives = 1
	False Positives = 0	True Negatives = 168
	Sensitivity	0.99394 (95% CI = 0.9667–0.9998)
	Specificity	1.00000 (95% CI = 0.9783–1.0000)
	PPV	1.00000
	Accuracy	0.99700 (95% CI = 0.9834–0.9999)
Small insertions/deletions * (1–50 bp)	True Positives = 137	False Negatives = 3
	False Positives = 0	True Negatives = 168
	Sensitivity	0.97857 (95% CI = 0.9387–0.9956)
	Specificity	1.00000 (95% CI = 0.9783–1.0000)
	PPV	1.00000
	Accuracy	0.99026 (95% CI = 0.9718–0.9980)
Structural Variants	True Positives = 118	False Negatives = 6
	False Positives = 0	True Negatives = 168
	Sensitivity	0.95833 (95% CI = 0.8977–0.9820)
	Specificity	1.00000 (95% CI = 0.9783–1.0000)
	PPV	1.00000
	Accuracy	0.97945 (95% CI = 0.9558–0.9924)
Mitochondrial Variants ∼ 100% Heteroplasmy	True Positives = 70	False Negatives = 0
	False Positives = 1	True Negatives = 34
	Sensitivity	1.00000 (95% CI = 0.9487–1.0000)
	Specificity	0.97143 (95% CI = 0.8508–0.9993)
	PPV	0.98592
	Accuracy	0.99048 (95% CI = 0.9481 – 0.9998)

^a Small insertion/deletions include insertions, deletions, and combinations of thereof below 50bp.