Table 1.
Characteristics of VAFs before and after ABRA2 for Deletions
| Case | Gene | Size of deletion | Estimated tumor cellularity, % | % Mismaps | % Mismaps fixed by ABRA2 | VC VAF, % | Manual calculation of |
Absolute difference between |
||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| (1) Before ABRA2 VAF, % |
(2) After ABRA2 VAF, % |
(3) True NGS VAF, % |
Before and after ABRA2 VAF (2) – (1), % |
After ABRA2 VAF and true NGS VAF (3) – (2), % |
Before ABRA2 VAF and true NGS VAF (3) – (1), % |
|||||||
| 1 | CDKN2A | 2 | 30 | 7.0 | 100 | 12.7 | 12.7 | 13.7 | 13.7 | 1.0 | 0 | 1.0 |
| TSC2 | 3 | 10.7 | 100 | 41.4 | 41.4 | 46.4 | 46.4 | 5.0 | 0 | 5.0 | ||
| 2 | EGFR | 18 | 20 | 38.0 | 88.9 | 12.0 | 11.9 | 18.3 | 19.1 | 6.4 | 0.8 | 7.2 |
| FOXO3 | 6 | 13.7 | 50 | 27.2 | 27.2 | 29.4 | 31.6 | 2.2 | 2.2 | 4.4 | ||
| 3 | PIK3R1 | 6 | 30 | 21.7 | 97.7 | 29.6 | 29.6 | 37.6 | 37.7 | 8.0 | 0.1 | 8.1 |
| 4 | CHD2 | 3 | 95 | 14.0 | 68.4 | 51.1 | 51.1 | 56.8 | 59.4 | 5.7 | 2.6 | 8.3 |
| 5 | NF2 | 5 | 60 | 16.4 | 66.7 | 28.6 | 28.2 | 31.9 | 33.7 | 3.7 | 1.8 | 5.5 |
| 6 | APC | 8 | 60 | 23.2 | 63.2 | 21.9 | 21.9 | 26.0 | 28.5 | 4.1 | 2.5 | 6.6 |
| ARID1A | 3 | 13.0 | 83.3 | 14.4 | 16.7 | 18.8 | 19.2 | 2.1 | 0.4 | 2.5 | ||
| 7 | APC | 1 | 60 | 5.0 | 100 | 65.5 | 65.4 | 68.9 | 68.9 | 3.5 | 0 | 3.5 |
| FANCD2 | 6 | 29.1 | 96.7 | 16.2 | 16.2 | 22.6 | 22.8 | 6.4 | 0.2 | 6.6 | ||
| PIK3R1 | 12 | 31.0 | 100 | 20.7 | 20.7 | 30.0 | 30.0 | 9.3 | 0 | 9.3 | ||
| 8 | PRKDC | 1 | 60 | 3.3 | 90.9 | 38.2 | 38.2 | 39.4 | 39.5 | 1.2 | 0.1 | 1.3 |
| 9 | HIST1H2AM | 2 | 80 | 6.6 | 96.8 | 42.5 | 42.5 | 45.4 | 45.5 | 2.9 | 0.1 | 3.0 |
| 10 | APC | 2 | 50 | 12.1 | 95 | 51.1 | 50.9 | 57.5 | 57.9 | 6.6 | 0.4 | 7.0 |
| 11 | ATRX | 1 | 90 | 5.0 | 100 | 37.7 | 37.7 | 39.7 | 39.7 | 2.0 | 0 | 2.0 |
| 12 | JARID2 | 18 | 70 | 39.8 | 100 | 27.0 | 27.0 | 44.8 | 44.8 | 17.8 | 0 | 17.8 |
| 13 | APC | 13 | 40 | 31.1 | 97.9 | 15.8 | 15.8 | 22.8 | 23.0 | 7.0 | 0.2 | 7.2 |
| 45 | KMT2D | 30 | 100 | 72.4 | 97.7 | 16.6 | 16.5 | 58.8 | 59.8 | 42.3 | 1.0 | 43.3 |
VC VAF % calculated by the VC before the use of ABRA2; (1), (2), and (3): manually calculated by visualizing reads in Integrative Genomics Viewer.
ABRA2, Assembly-Based ReAligner; NGS, next-generation sequencing; VAF, variant allele frequency; VC, variant caller.