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Table 4 Number of changes

From: Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations

Gene name Sanger NextGENe % called
BCKDHA_1 2 2 100%
BCKDHA_2 4 4 100%
CBS 2 2 100%
CFTR 3 3 100%
DMD 6 6 100%
GAA 20 20 100%
GALC_1 12 12 100%
GALC_2 9 9 100%
GALT 2 2 100%
GBA_1 5 5 100%
GBA_2 3 3 100%
GJB2 2 2 100%
HEXB 7 7 100%
IDUA 13 13 100%
OPA1 3 3 100%
RECQL4 11 11 100%
SGSH 6 6 100%
SMPD1 3 3 100%
ZEB2 2 2 100%
Total changes 119 119 100%
  1. Summary of the number of changes picked up on the validation run.
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