Assay reproducibility of the identification of CFTR mutations by targeted resequencing
Sample | 1 | 2 | 3 | 4 | 4 Samples | |||||
---|---|---|---|---|---|---|---|---|---|---|
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.