Table 3

Assay reproducibility of the identification of CFTR mutations by targeted resequencing

Sample	1		2		3		4		4 Samples
Sample	Reproducibility	Per cent	Reproducibility	Per cent	Reproducibility	Per cent	Reproducibility	Per cent	Reproducibility	Per cent
SNPs	200/208	96.15	129/131	98.47	134/142	94.37	78/82	95.12	541/563	96.09
InDels	38/55	69.09	21/33	63.64	31/37	83.78	16/23	69.57	106/148	71.62
All Variants	238/263	90.49	150/164	91.46	165/179	92.18	94/105	89.52	647/711	91.00
Coverage	Mean	SD	Mean	SD	Mean	SD	Mean	SD	Mean	SD
Matched	128.14	107.16	242.77	174.01	106.61	89.59	99,19	76.98	144.58	130.48
Unmatched	41.94	74.56	80.86	132.04	10.15	7.58	15,22	13.65	33.47	70.24

CFTR, cystic fibrosis transmembrane regulator; InDels, insertions and deletions.