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

  1. The CNVs detected by NGS were orthogonally validated by ddPCR or MLPA. The final CN assessment isreported in column 5. The ddPCR cut-off for calling a copy number alteration in cfDNA was 1.78 ± 0.24PTK2/TTC5 and 1.20 ± 0.39 TUSC3/TTC5. The NGS cut-offs for calling a gain were > 2 for 8q and > 3 for8p. CN copy number, T0 baseline, P progression.