Table 1 Variant allele frequency underestimation due to overlapping primer site.
Sample | Mutation | VAF | Overlap with other primer site? | VAF underestimation | |
|---|---|---|---|---|---|
Approach 2 | Approach 3 | ||||
NDH1 | BRCA1 c.4372C>T | 9% | 51% | Yes | 82% |
PMH1 | BRCA2 c.8023A>G | 19% | 49% | Yes | 61% |
TWH1 | BRCA2 c.1261C>T | 50% | 74% | Yes | 32% |
TWH2 | BRCA2 c.3109C>T | 51% | 51% | No | 0% |
TWH3 | BRCA1 c.502A>T | 17% | 46% | Yes | 63% |
QMH1 | BRCA1 c.3858_3861del | 60% | 72% | Yes | 17% |
