Table 5 Somatic SNV/indel detected by NGS and validated using ddPCR.

From: A model workflow for microfluidic enrichment and genetic analysis of circulating melanoma cells

  

WGA samples

Lysate samples

cfDNA samples

  

EXP #1_WGA

EXP #2_WGA

EXP #3_WGA

EXP #2_LYS

EXP #3_LYS

cfDNA_T0

cfDNA_P

GNAQ

NGS MAF%

2.7

3.3

87.8

6.3

92.6

6.1

59.4

ddPCR MAF%

2

6.2

94

ND

ND

6.2

69.6

BAP1

NGS MAF%

2.3

5.6

87.3

3.10

90.6

4.0

46.6

ddPCR MAF%

NA

NA

NA

NA

NA

NA

NA

  1. The details of the SNV/indelidentified are as follows: GNAQ: chromosomal location 9q21.2, position (hg38) chr9:77794572, c.626 A T, p.Q209L, Nonsynonimus; BAP1: chromosomal location 3p21.1, position (hg38) chr3:52406288–52,406,323, c.713_748 del,p.R238_V250 delinsM, Inframe. cfDNA cell-free DNA, LYS lysate, MAF mutant allele fraction, NA notappropriate; ND not done, T0 before starting the therapy, P progression, WGA Whole genome amplification.