Research Article
Genetic Testing in Hereditary Breast and Ovarian Cancer Using Massive Parallel Sequencing
Table 1
Summary of sequencing runs and coverage results of the validation set.
| ā | Run 1 | Run 2 | Run 3 | BRCAMASTRv1.2 | BRCAMASTRv2.0 | BRCAMASTRv2.0 |
| Samples | 7 | 8 | 8 | Amplicons | 169 | 94 | 94 | Passed filter reads | 118006 | 78777 | 100771 | Mapped reads | 113374 | 78698 | 100344 |
| Coverage (number of reads/amplicon) | Minimum | 19 | 13 | 17 | Mean | 96,98 | 102,7 | 132,27 | Maximum | 277 | 445 | 414 | Standard deviation coverage | 35,8 | 46,92 | 70,51 | Amplicons <38 reads (%) | 32 (2.7) | 32 (4.2) | 13 (1.72) |
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