Table 2 NGS accuracy sample results
# | Sample | Mutations | Coverage RDa (% mutant allele) | Coverage SSa (% mutant allele) | Mean coverage | Other information |
|---|---|---|---|---|---|---|
1 | FBN1 Positive | c.1585C>T, p.R529X | 101x (47%) | 576x (60%) | 1477x (RD) 508x (SS) | In COL3A1, c.198A>G, p.I66M, a novel change. |
2 | TGFBR1 Positive | c.799A>G, p.N267D | 317x (51%) | 504x (58%) | 462x (RD) 563x (SS) | Â |
3 | TGFBR2 Positive | c.1583G>A, p.R528H | 183x (48%) | 257x (50%) | 177x (RD) 499x (SS) | Â |
4 | MYH11 Positive | IVS32+1C>A (splice) | 71x (58%) | 80x (50%) | 140x (RD) 164x (SS) | Â |
5 | Symptomatic unknown | No mutations found. | NA | NA | 33x (RD) 260x (SS) | In SLC2A10 p.A206T (rs#2235491) and p.A385G (rs#79849424). In NOTCH1, IVS16-4C>CT (rs#3125001). |
6 | Symptomatic unknown | COL3A1 IVS9-7T>C novel change; potential splice site variant | 48x (56%) | 416x (50%) | 86x (RD) 355x (SS) | In COL3A1, p.A698T (rs#1800255). In FBN2, p.V965I (rs#154001). |
7 | FBN1 Coriell positive | Unable to confirm due to sample quality. | Failed merge between DNA and primer library droplets | Poor data due to low quality DNA | NA | Â |
8 | Healthy Control | No mutations found | NA | Failed due pipetting error | 340x (RD) | Â |