Table 2 Summary of WGS-MRD qPCR assay performance in ALL, HR-NB and EWS.
Patient ID | WGS-MRD target gene | Chr | Breakpoint | Type | Slope value | R2 value | qPCR quantitative range | qPCR sensitivity |
|---|---|---|---|---|---|---|---|---|
ALL-1 | CDKN2A/B1 | 9 | 21901886 | Del | −3.648 | 0.9993 | 10−5 | 10−5 |
ALL-2 | CDKN2A/B2 | 9 | 21469564 | Del | −3.584 | 0.9941 | 10−4 | 10−5 |
ALL-3 | CDKN2A/B3 | 9 | 21948309 | Del | −3.571 | 0.9995 | 10−5 | 10−5 |
ALL-4 | CDKN2A/B4 | 9 | 21802667 | Del | −3.555 | 0.9982 | 10−4 | 10−4 |
ALL-5 | CDKN2A/B5 | 9 | 21975749 | Del | −3.881 | 0.9952 | 10−4 | 10−5 |
ALL-6 | CDKN2A/B6 | 9 | 21968001 | Del | −3.516 | 0.9971 | 10−4 | 10−5 |
HR-NB1 | EZH2 | 7 | 148541457 | Del | −3.516 | 0.9971 | 10−4 | 10−5 |
HR-NB2 | TERT | 5 | 1296732 | Dup | −3.472 | 0.9959 | 10−4 | 10−4 |
HR-NB3 | MYCN | 2 | 16013211 | Dup | −3.509 | 0.9975 | 10−5 | 10−5 |
HR-NB4 | CNTN51 | 11 | 99492525 | Del | −3.807 | 0.9995 | 10−4 | 10−4 |
HR-NB5 | CNTN52 | 11 | 99812931 | Del | −3.363 | 0.9988 | 10−5 | 10−5 |
HR-NB6 | NDST4 | 4 | 116044033 | Del | −3.395 | 0.9974 | 10−4 | 10−4 |
EWS-1 | CDKN2A | 9 | 22035192 | Del | −3.291 | 0.9959 | 10−5 | 10−5 |
EWS-2 | CCDC117 | 22 | 29170280 | Del | −3.363 | 0.9993 | 10−4 | 10−5 |
EWS-3 | PPP2R5 | 14 | 10234781 | Dup | −3.341 | 0.9867 | 10−5 | 10−5 |
EWS-4 | CPEB4 | 5 | 173327179 | Inv | −3.54 | 0.9927 | 10−4 | 10−4 |
EWS-5 | SnoU13 | 1 | 231036549 | Del | −3.311 | 0.9993 | 10−4 | 10−4 |
EWS-6 | RASGRF2 | 5 | 80404590 | Del | −3.875 | 0.999 | 10−4 | 10−4 |
