Table 2

Sequencing results
Patient 1 Patient 2 Patient 3 Patient 4 Patient 5
Number of NGS runs 1 1 1 2 2
454 experiment Standard 1/3 run Standard 1/3 run Standard 1/3 run Standard 1/5 Titanium 1/12 Standard 1/5 Titanium 1/12
Mapped reads 127980 96538 111492 24940* (Std) 24192* (Tit) 16767* (Std) 40169* (Tit)
Total average coverage 221 168 194 73* 88*
% sequenced amplicons with coverage > 38 94.4 93.2 96.3 80.3 85.3
% sequenced amplicons with coverage > 30 95.3 94.6 97.2 86.8 91.5
% sequenced amplicons with coverage > 5 97.2 97.2 99.0 94.6 96.3
Mutations New mutation found in CDH23 New mutation found in CDH23 No mutation could be clearly identified New mutation found in OTOF Known mutation in TMC1 confirmed

(*) The values for the average coverage for patient 4 and 5 are the total over the 2 runs (standard and titanium).

De Keulenaer et al.

De Keulenaer et al. BMC Medical Genomics 2012 5:17   doi:10.1186/1755-8794-5-17

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