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Table 1 Detecting rare synthetic variants across multiple lanes

From: RVD: a command-line program for ultrasensitive rare single nucleotide variant detection using targeted next-generation DNA resequencing

Mutant fraction of sample

0.1%

0.3%

1%

10%

100%

Sequence lane

1

2

2

3

3

Sensitivity

100%

100%

100%

100%

100%

Specificity

98.8%

100.0%

99.9%

99.8%

100%

  1. When the reference and sample are sequenced in different lanes, rare (>0.3%) variants are still called with high sensitivity and specificity. A 0.01% resolution threshold and 30 base quality threshold were used, and the reference was sequenced in Lane 1.