Table 3 Detection of variants in decreasing proportions of the total sample using GeneRead V.1
Sample | Variant | Dilution | % coverage @100x | Expected variant allele proportion* | Observed variant allele proportion | Variant reads/total reads |
|---|---|---|---|---|---|---|
AZ10 | BRCA2 c.10095delinsGAATTATATCT p.(Ser3366AsnfsTer4) | 1/2 | 96.9% | ~46% | 48% | 2107/4405 |
1/4 | 97.0% | ~23% | 20% | 1438/7185 | ||
1/8 | 97.0% | ~11% | 9% | 747/7871 | ||
1/16 | 96.5% | ~5% | 4% | 322/7591 | ||
AZ17 | BRCA1 c.2060A>C p.(Gln687Pro) | 1/2 | 97.0% | ~45% | 72.2% | 5094/7051 |
1/4 | 97.0% | ~23% | 55.5% | 3428/6174 | ||
1/8 | 97.0% | ~11% | 33.6% | 2220/6610 | ||
1/16 | 97.0% | ~5.5% | 19.1% | 1056/5523 | ||
AZ23 | BRCA2 c.7007+1G>C | 1/2 | 96.9% | ~40% | 67% | 2645/3949 |
1/4 | 97.0% | ~20% | 51% | 3235/6340 | ||
1/8 | 97.0% | ~10% | 35.1% | 3264/9287 | ||
1/16 | 97.0% | ~5% | 20.2% | 1351/6700 |