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Table 3 Comparison of the variant call sensitivity between the Variant Caller plugin and the pipeline developed in-house

From: Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology

 

In-house pipeline

Variant Caller Ion Torrent Suite

Variants found

574

587

False positives

25

35

Sensitivity

95.64%

94.03%

Reproducibility (NGS only)

94.17%

94.71%

Reproducibility (NGS+Sanger)

100%

100%

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Human Genomics

ISSN: 1479-7364