Table 2.
Distribution of Known And Novel SNPs in Dideoxy-validated Variant Calls
| Variant Call Category | Total Validated Calls | SNP Calls Confirmed | Calls Not-confirmed | Confirmed SNP Calls% | Missed SNP Calls (called as reference base) |
|---|---|---|---|---|---|
| Match known dbSNPs | 125 | 116 | 9 | 92.80% | 8 |
| Novel or rare SNPs | 147 | 16 | 131 | 10.90% | 1 |
| Total | 272 | 132 | 140 | 9 | |
| Variant false-positive rate | 51.47% | ||||
| Variant false-negative rate | 6.38% | ||||
Selected variant calls (SNP or no calls) identified mainly in the patient group by resequencing chip assays were subjected to dideoxy sequencing validation. Many of these lead to non-synonymous amino acid changes.