Table 1

Sequencing quality control parameters, coverage and detected variants by targeted resequencing of the CFTR gene using pools of 8, 12, 16 and 24 samples

Samples	Pool name	All samples	8A	8B	12A	12B	16A	16B	24A
Samples	Precapture pooling (number of samples)	All	8	8	12	12	16	16	24
Sequencing	QC-passed reads±%CV	11701689±35	19187383±14	17639.073±20	8430967±15	11654345±15	8614519±10	10449749±30	11779102±26
	% Mapped	94.9	97.13	96.36	94.53	96.36	96.4	94.23	92.58
	% Properly paired	92.98	96.03	95.05	92.49	95.06	95.04	92.07	89.73
Coverage	Mean coverage (X)±%CV	231±43	425±16	358±22	101±12	223±16	173±12	212±29	244±22
	Mean coverage extended 150 bp (X)±%CV	199±43	367±17	313±22	88±11	192±16	150±13	181±29	209±22
	% Enrichment	55.31	58.54	57.12	43.29	55.8	56.42	56.67	57.75
	% target bases covered=0×	0.07	0.03	0.01	0.12	0.1	0.09	0.07	0.06
	% target bases covered≥1×	99.93	99.97	99.99	99.88	99.9	99.91	99.93	99.94
	% target bases covered≥5×	99.7	99.84	99.86	99.41	99.72	99.76	99.67	99.72
	% target bases covered≥10×	99.39	99.76	99.78	98.55	99.49	99.56	99.29	99.45
	% target bases covered≥20×	98.48	99.63	99.58	95.92	98.82	98.92	98.23	98.69
	% target bases covered≥50×	93.13	98.86	98.38	79.25	95.1	94.74	92.49	94.78
	% target bases covered≥100×	78.53	96.34	93.79	43.14	83.23	77.56	78.29	83.64
CFTR variants	SNVs	115	124	89	121	119	124	121	104
	Novel SNVs	4	5	5	3	3	4	3	4
	Exonic SNVs	3	2	2	3	3	3	3	2
	Missense, nonsense and splice site SNPs	2	2	1	2	2	2	2	2
	InDels	28	29	29	28	30	31	28	25
	Novel InDels	19	19	19	19	20	21	17	16
	Frameshift and non-Frameshift InDels	1	1	1	1	1	1	1	1

CFTR, cystic fibrosis transmembrane regulator; CV, Coefficient of variation; InDels, insertions and deletions; SNV, single nucleotide variants; QC, Coefficient of variation.