TableĀ 3

Assay reproducibility of the identification of CFTR mutations by targeted resequencing

Sample12344 Samples
ReproducibilityPer centReproducibilityPer centReproducibilityPer centReproducibilityPer centReproducibilityPer cent
SNPs200/20896.15129/13198.47134/14294.3778/8295.12541/56396.09
InDels38/5569.0921/3363.6431/3783.7816/2369.57106/14871.62
All Variants238/26390.49150/16491.46165/17992.1894/10589.52647/71191.00
CoverageMeanSDMeanSDMeanSDMeanSDMeanSD
Matched128.14107.16242.77174.01106.6189.5999,1976.98144.58130.48
Unmatched41.9474.5680.86132.0410.157.5815,2213.6533.4770.24
  • CFTR, cystic fibrosis transmembrane regulator; InDels, insertions and deletions.