Table 6 CNVs detected by NGS and validated usingddPCR/MLPA.
From: A model workflow for microfluidic enrichment and genetic analysis of circulating melanoma cells
Sample ID | Position | NGS CN | ddPCR CN (PTK2/TTC5) | Final CN assessment |
|---|---|---|---|---|
cfDNA_T0 | 8q24.3 | 2 | 2.3 | Gain |
cfDNA_P | 4 | 4.5 | Gain | |
EXP #3_WGA | 4 | 4.8 | Gain | |
EXP #3_LYS | 5 | ND | Gain | |
Sample ID | Position | NGS CN | ddPCR CN (TUSC3/TTC5) | Final CN assessment |
cfDNA_T0 | 8p22 | 2 | 0.8 | Loss |
cfDNA_P | 3 | 0.6 | Loss | |
EXP #3_WGA | 3 | 1 | Diploid/Loss | |
EXP #3_LYS | 3 | ND | Diploid | |
Sample ID | Position | NGS CN | MLPA CN (CDKN2A) | Final CN assessment |
cfDNA_T0 | 9p21.3 | 2 | ND | Diploid |
cfDNA_P | 0 | 0 | Loss | |
EXP #3_WGA | 0 | 0 | Loss | |
EXP #3_LYS | 0 | ND | Loss |