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Table 2 NGS accuracy sample results

From: A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective

# 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)  
3 TGFBR2 Positive c.1583G>A, p.R528H 183x (48%) 257x (50%) 177x (RD) 499x (SS)  
4 MYH11 Positive IVS32+1C>A (splice) 71x (58%) 80x (50%) 140x (RD) 164x (SS)  
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  
8 Healthy Control No mutations found NA Failed due pipetting error 340x (RD)  
  1. aRainDance (RD) and SureSelect (SS). All variants reported in this table are heterozygous as confirmed by Sanger sequencing (data not shown). NA, not applicable.